F115L (p.Phe115Leu) variant of PKD1 (Polycystin-1)
F115L (p.Phe115Leu) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
F115L (p.Phe115Leu) variant details
- p.Phe115Leu
- gnomAD rs1408818434
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available