ITGA8 p.Pro161=
c.483G>A · rs72781816 · VCV783031
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.1%, nfe)
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 -5 | GERP -4.4 |
| Overall | ||
| CADD | 1.326 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.1%
European (non-Finnish) · 12,977/1,179,926 alleles
Filtering AF
1.08%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.08%
Overall
0.904%
14,592/1,613,972 alleles · low-frequency
exomes 13,736/1,461,748 · genomes 856/152,224 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 1.1% | 91 |
| Remaining individualsnot grpmax-eligible | 0.747% | 134 |
| Middle Eastern | 0.709% | 141 |
| South Asian | 0.623% | 161 |
| Admixed American | 0.393% | 254 |
| Amishnot grpmax-eligible | 0.219% | 456 |
| African / African-American | 0.209% | 478 |
| Ashkenazi Jewishnot grpmax-eligible | 0.169% | 592 |
| Finnishnot grpmax-eligible | 0.141% | 711 |
| East Asian | 0.00669% | 14,957 |
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
- ITGA8
- Protein
- p.Pro161=
- Coding
- c.483G>A
- MANE Select
- NM_003638
- dbSNP
- rs72781816
- Type
- single nucleotide variant
- Location
- chr10:15684089 (GRCh38)
- Gene constraint
- LOEUF 0.801 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.08
Similar variants
- ITGA8 p.Pro161Leu Uncertain significance ★★ ⚠ same residue
- ITGA8 p.Pro161Ser Uncertain significance ★ ⚠ same residue
- ITGA8 p.Pro161Gln Likely benign ★ same residue
- ITGA8 c.2982+2T>C Pathogenic/Likely pathogenic ★★ same type
- ITGA8 p.Arg938Ter Pathogenic ★★ same type
- ITGA8 p.Gln876Ter Likely pathogenic ★★ same type
- ITGA8 p.Ala552Thr Uncertain significance ★★ ⚠ same type
- ITGA8 p.Ala848Ser 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/itga8-p-pro161 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown