COL8A2 p.Val269=
c.807G>A · rs140730816 · VCV785936
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.36%, afr)
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 -0.3 | GERP -1.9, phastCons 0.09 |
| Overall | ||
| CADD | 3.486 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.36%
African / African-American · 1,017/74,940 alleles
Filtering AF
1.29%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.26%
Overall
0.0811%
1,308/1,612,348 alleles · low-frequency
exomes 732/1,460,472 · genomes 576/151,876 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.36% | 74 |
| Remaining individualsnot grpmax-eligible | 0.114% | 880 |
| Admixed American | 0.09% | 1,111 |
| Middle Eastern | 0.0661% | 1,514 |
| European (non-Finnish) | 0.0136% | 7,373 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,588 |
| South Asian | 0.0011% | 91,046 |
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.Val269=
- Coding
- c.807G>A
- MANE Select
- NM_005202
- dbSNP
- rs140730816
- Type
- single nucleotide variant
- Location
- chr1:36098874 (GRCh38)
- Gene constraint
- LOEUF 1.139 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 58.03
- Residue 269
- the 'disordered' region; the 'triple-helical region' region
Similar variants
- COL8A2 p.Val269Met Uncertain significance ★ ⚠ same residue
- COL8A2 p.Val269Leu Likely benign ★ same residue
- 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
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-val269 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown