P22S (p.Pro22Ser) variant of COL5A1 (Collagen alpha-1(V) chain)
P22S (p.Pro22Ser) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- TOPMed rs963540956
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.12
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 4.2e-05)
- Structural context available