T35M (p.Thr35Met) variant of PKP1 (Plakophilin-1)
T35M (p.Thr35Met) in PKP1 (Plakophilin-1) is a missense change. 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.
T35M (p.Thr35Met) variant details
- p.Thr35Met
- TOPMed rs780267593
- gnomAD rs780267593
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.06
- CADD 24.10
- PolyPhen-2 0.80
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available