G37V (p.Gly37Val) variant of PKP1 (Plakophilin-1)
G37V (p.Gly37Val) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
G37V (p.Gly37Val) variant details
- p.Gly37Val
- gnomAD 1-201283812-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.22
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available