P6L (p.Pro6Leu) variant of PKD1 (Polycystin-1)
P6L (p.Pro6Leu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- Ensembl rs2092941991
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.01
- Population evidence available
- Structural context available