E13G (p.Glu13Gly) variant of PKP1 (Plakophilin-1)
E13G (p.Glu13Gly) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E13G (p.Glu13Gly) variant details
- p.Glu13Gly
- gnomAD 1-201283740-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.23
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available