P41L (p.Pro41Leu) variant of PKD1 (Polycystin-1)
P41L (p.Pro41Leu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- gnomAD rs918687
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- MetaLR 0.12
- MetaSVM -0.98
- CADD 20.90
- PolyPhen-2 1.00
- SIFT 0.21
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available