P22T (p.Pro22Thr) variant of COL5A1 (Collagen alpha-1(V) chain)
P22T (p.Pro22Thr) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- gnomAD 9-134642251-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.19
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.58
- Population evidence available
- Structural context available
- Literature evidence available