L56V (p.Leu56Val) variant of PKD1 (Polycystin-1)
L56V (p.Leu56Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L56V (p.Leu56Val) variant details
- p.Leu56Val
- Ensembl rs2092940218
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.00
- CADD 16.50
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available