Is CASP10 p.Val112fs (c.334del) pathogenic?

CASP10 p.Val112fs (c.334del) is classified Likely pathogenic in CASP10 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-22). Associated with Susceptibility to severe COVID-19.

What condition is associated with CASP10 p.Val112fs (c.334del)?

CASP10 p.Val112fs (c.334del) is associated with Susceptibility to severe COVID-19 (ClinVar).

CASP10 p.Val112fs

c.334del · VCV3256935

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Susceptibility to severe COVID-19

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 2 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.7	GERP -3.4, phastCons 0.49

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: CASP10
Protein: p.Val112fs
Coding: c.334del
MANE Select: NM_032977
Type: Deletion
Location: chr2:201186109 (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

Susceptibility to severe COVID-19

Similar variants

CASP10 p.Val112Ala 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.Ile44Thr Uncertain significance ★ ⚠ same condition
CASP10 p.Leu156Val Uncertain significance ★ ⚠ same condition
CASP10 p.Val275Ala Uncertain significance ⚠ same condition
CASP10 p.Asp202= Likely benign 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-val112fs (accessed [today's date]).

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