S57P (p.Ser57Pro) variant of PKP1 (Plakophilin-1)
S57P (p.Ser57Pro) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S57P (p.Ser57Pro) variant details
- p.Ser57Pro
- gnomAD rs1376177104
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.15
- CADD 25.80
- PolyPhen-2 0.55
- SIFT 0.11
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available