R38G (p.Arg38Gly) variant of PKP1 (Plakophilin-1)
R38G (p.Arg38Gly) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- ExAC rs754822585
- gnomAD rs754822585
- Missense
- Variant Prioritization Score for Impact Estimate 0.0955
- REVEL 0.02
- CADD 19.10
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available