Y71F (p.Tyr71Phe) variant of PKP1 (Plakophilin-1)
Y71F (p.Tyr71Phe) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
Y71F (p.Tyr71Phe) variant details
- p.Tyr71Phe
- ExAC rs751318467
- gnomAD rs751318467
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.32
- CADD 23.90
- PolyPhen-2 0.98
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available