S4L (p.Ser4Leu) variant of PKP1 (Plakophilin-1)
S4L (p.Ser4Leu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S4L (p.Ser4Leu) variant details
- p.Ser4Leu
- cosmic curated COSV55823
- TOPMed rs1475958808
- gnomAD rs1475958808
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.14
- CADD 29.90
- PolyPhen-2 0.21
- SIFT 0.01
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available