R38S (p.Arg38Ser) variant of PKP1 (Plakophilin-1)
R38S (p.Arg38Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- ESP rs375084708
- ExAC rs375084708
- TOPMed rs375084708
- gnomAD rs375084708
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.02
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available