R51Q (p.Arg51Gln) variant of PKP1 (Plakophilin-1)
R51Q (p.Arg51Gln) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R51Q (p.Arg51Gln) variant details
- p.Arg51Gln
- gnomAD 1-201283854-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.24
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available