M70V (p.Met70Val) variant of PKP1 (Plakophilin-1)
M70V (p.Met70Val) in PKP1 (Plakophilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Epidermolysis bullosa simplex due to plakophilin deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
M70V (p.Met70Val) variant details
- p.Met70Val
- ExAC rs777570553
- TOPMed rs777570553
- gnomAD rs777570553
- Uncertain significance
- not provided; Epidermolysis bullosa simplex due to plakophilin deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.31
- CADD 15.80
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Epidermolysis bullosa simplex due to plakophilin d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available