S54C (p.Ser54Cys) variant of PKP1 (Plakophilin-1)
S54C (p.Ser54Cys) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
S54C (p.Ser54Cys) variant details
- p.Ser54Cys
- ExAC rs765625993
- gnomAD rs765625993
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.07
- CADD 27.10
- PolyPhen-2 0.33
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available