P122S (p.Pro122Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
P122S (p.Pro122Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P122S (p.Pro122Ser) variant details
- p.Pro122Ser
- ExAC rs764608533
- TOPMed rs764608533
- gnomAD rs764608533
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.46
- CADD 23.30
- PolyPhen-2 0.44
- SIFT 0.11
- Population evidence available
- Structural context available