COL8A2 p.Ala32=
c.96C>T · rs369481166 · VCV2721842
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.076%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.3 | GERP -2.4 |
| Overall | ||
| CADD | 8.737 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.076%
European (non-Finnish) · 896/1,179,488 alleles
Filtering AF
0.0718%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0702%
Overall
0.0633%
1,021/1,612,470 alleles · ultra-rare
exomes 955/1,460,252 · genomes 66/152,218 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.076% | 1,316 |
| Remaining individualsnot grpmax-eligible | 0.0689% | 1,452 |
| Finnishnot grpmax-eligible | 0.0633% | 1,580 |
| Middle Eastern | 0.0497% | 2,013 |
| East Asian | 0.0379% | 2,638 |
| African / African-American | 0.0187% | 5,358 |
| Admixed American | 0.01% | 9,991 |
| South Asian | 0.0022% | 45,517 |
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
- COL8A2
- Protein
- p.Ala32=
- Coding
- c.96C>T
- MANE Select
- NM_005202
- dbSNP
- rs369481166
- Type
- single nucleotide variant
- Location
- chr1:36100147 (GRCh38)
- Gene constraint
- LOEUF 1.139 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 58.03
- Residue 32
- the 'nonhelical region (nc2)' region
Similar variants
- COL8A2 p.Arg149Gln Uncertain significance ★★ ⚠ same type
- COL8A2 p.Arg263Ser Uncertain significance ★★ ⚠ same type
- COL8A2 p.Arg372Cys Uncertain significance ★★ ⚠ same type
- COL8A2 p.Glu568Lys Uncertain significance ★★ ⚠ same type
- COL8A2 p.Gly549Ser Uncertain significance ★★ ⚠ same type
- COL8A2 p.Gly550Ser Uncertain significance ★★ ⚠ same type
- COL8A2 p.Gly559Glu Uncertain significance ★★ ⚠ same type
- COL8A2 p.Gly601Ala Uncertain significance ★★ ⚠ same type
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/col8a2-p-ala32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown