Q58L (p.Gln58Leu) variant of PKP1 (Plakophilin-1)
Q58L (p.Gln58Leu) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q58L (p.Gln58Leu) variant details
- p.Gln58Leu
- gnomAD 1-201283875-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.08
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available