M70T (p.Met70Thr) variant of PKP1 (Plakophilin-1)
M70T (p.Met70Thr) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M70T (p.Met70Thr) variant details
- p.Met70Thr
- gnomAD 1-201293948-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.24
- CADD 20.10
- PolyPhen-2 0.07
- SIFT 0.29
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available