G68S (p.Gly68Ser) variant of PKP1 (Plakophilin-1)
G68S (p.Gly68Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G68S (p.Gly68Ser) variant details
- p.Gly68Ser
- ExAC rs748066233
- gnomAD rs748066233
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.16
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available