P15A (p.Pro15Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
P15A (p.Pro15Ala) in COL4A3 (Collagen alpha-3(IV) 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.
P15A (p.Pro15Ala) variant details
- p.Pro15Ala
- gnomAD 2-227164769-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.20
- CADD 7.32
- PolyPhen-2 0.00
- SIFT 0.91
- Population evidence available
- Structural context available
- Literature evidence available