P59S (p.Pro59Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
P59S (p.Pro59Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- gnomAD X-108559097-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.43
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available