R38K (p.Arg38Lys) variant of PKP1 (Plakophilin-1)
R38K (p.Arg38Lys) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R38K (p.Arg38Lys) variant details
- p.Arg38Lys
- cosmic curated COSV10506
- TOPMed rs1320012247
- gnomAD rs1320012247
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.06
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.95
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available