E13E (p.Glu13Glu) variant of PKP1 (Plakophilin-1)
E13E (p.Glu13Glu) in PKP1 (Plakophilin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E13E (p.Glu13Glu) variant details
- p.Glu13Glu
- rs759929631
- gnomAD 1-201283741-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.184
- CADD 14.60
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available