Sugi Variant
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CORO7/p.Asp50Asn

CORO7 p.Asp50Asn

c.148G>A · rs1170982260 · VCV2293770

Uncertain significance Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
likely benign
0.1064 · ACMG-weighted
gnomAD v4.1
Rare
very rare (popmax 0.00134%, afr)
Missense predictors
0/2 damaging
AlphaMissense, SaProt · REVEL no call

Computational evidence

Protein change
AlphaMissense0.1064likely benign
REVEL0.36indeterminate
SaProtLLR -8.46tolerated
⇒ AlphaMissense and SaProt both call this tolerated; REVEL makes no call.
Splicing
SpliceAI—not assessed · no allele here is in the release
Constraint at this position
ConservationphyloP 3.9GERP 1.4, phastCons 1
Regional constrainto/e 1.05unconstrained · MANE · 61 kb · p 0.1 · regional, not allelic
Overall
CADD22.6PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes
Grpmax group 0.00134% African / African-American · 1/74,494 alleles
Filtering AF 0.000508% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000372%
Overall 0.000981% 14/1,426,854 alleles · very rare
Ancestry group Frequency 1 in
Remaining individualsnot grpmax-eligible 0.00163% 61,258
African / African-Americangrpmax 0.00134% 74,494
South Asian 0.00116% 86,444
European (non-Finnish) 0.000947% 105,569

Remaining individuals shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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
CORO7
Protein
p.Asp50Asn
Coding
c.148G>A
MANE Select
NM_024535
dbSNP
rs1170982260
Type
single nucleotide variant
Location
chr16:4413317 (GRCh38)
Gene constraint
LOEUF 1.089 · pLI <0.01 (gnomAD)
Structure
AlphaFold pLDDT 86.71 · 1 PDB
Full CORO7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

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/coro7-p-asp50asn (accessed [today's date]).

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