W20L (p.Trp20Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
W20L (p.Trp20Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
W20L (p.Trp20Leu) variant details
- p.Trp20Leu
- cosmic curated COSV10008
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.29
- MetaLR 0.44
- MetaSVM -0.61
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available