P23S (p.Pro23Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
P23S (p.Pro23Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
P23S (p.Pro23Ser) variant details
- p.Pro23Ser
- gnomAD X-108440192-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.34
- MetaLR 0.37
- MetaSVM -0.62
- CADD 21.60
- PolyPhen-2 0.25
- SIFT 0.73
- Population evidence available
- Structural context available
- Literature evidence available