Q52R (p.Gln52Arg) variant of PKP1 (Plakophilin-1)
Q52R (p.Gln52Arg) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q52R (p.Gln52Arg) variant details
- p.Gln52Arg
- cosmic curated COSV55821
- gnomAD rs1187154159
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.07
- CADD 23.00
- PolyPhen-2 0.47
- SIFT 0.41
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available