P22L (p.Pro22Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
P22L (p.Pro22Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- gnomAD 9-134642252-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.18
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available