Is CASP10 p.Asp202= (c.606C>T) pathogenic?

CASP10 p.Asp202= (c.606C>T) is classified Likely benign in CASP10 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2023-02-08). Ultra-rare (popmax 0.0944%, sas); Associated with CASP10-related disorder.

What condition is associated with CASP10 p.Asp202= (c.606C>T)?

CASP10 p.Asp202= (c.606C>T) is associated with CASP10-related disorder (ClinVar).

How common is CASP10 p.Asp202= (c.606C>T) in the general population?

CASP10 p.Asp202= (c.606C>T) is ultra-rare (popmax 0.0944%, sas) (gnomAD).

CASP10 p.Asp202=

c.606C>T · rs748679960 · VCV3048244

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0944%, sas)

Conditions

CASP10-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -2.5	GERP -2.5
Overall
CADD	1.257	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0944% South Asian · 86/91,072 alleles

Filtering AF 0.0782% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0723%

Overall 0.00545% 88/1,613,688 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0944%	1,059
Remaining individualsnot grpmax-eligible	0.0016%	62,478
European (non-Finnish)	8.48e-05%	1,179,668

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CASP10
Protein: p.Asp202=
Coding: c.606C>T
MANE Select: NM_032977
dbSNP: rs748679960
Type: single nucleotide variant
Location: chr2:201195870 (GRCh38)
Gene constraint: LOEUF 1.046 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 69.54

Full CASP10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CASP10-related disorder

Similar variants

CASP10 p.Asp202Asn Uncertain significance ★ ⚠ same residue
CASP10 p.Asp202Gly Uncertain significance ★ ⚠ same residue
CASP10 p.Ala400Thr Uncertain significance ★★ ⚠ same condition
CASP10 p.Pro387Ala Uncertain significance ★★ ⚠ same condition
CASP10 p.Tyr208Cys Uncertain significance ★★ ⚠ same condition
CASP10 p.Asp202fs Uncertain significance ★ same residue
CASP10 p.Ile44Thr Uncertain significance ★ ⚠ same condition
CASP10 p.Leu156Val Uncertain significance ★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/casp10-p-asp202 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown