V41L (p.Val41Leu) variant of PKP1 (Plakophilin-1)
V41L (p.Val41Leu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- TOPMed rs1655645247
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.17
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.12
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available