L63V (p.Leu63Val) variant of PKD1 (Polycystin-1)
L63V (p.Leu63Val) in PKD1 (Polycystin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L63V (p.Leu63Val) variant details
- p.Leu63Val
- gnomAD rs1346962118
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.12
- MetaLR 0.07
- MetaSVM -1.03
- CADD 19.10
- SIFT 0.25
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available