D72N (p.Asp72Asn) variant of PKP1 (Plakophilin-1)
D72N (p.Asp72Asn) in PKP1 (Plakophilin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D72N (p.Asp72Asn) variant details
- p.Asp72Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.25
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.16
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available