R40H (p.Arg40His) variant of PKP1 (Plakophilin-1)
R40H (p.Arg40His) 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 0.53 / 1. The record also includes population frequency data and structural context.
R40H (p.Arg40His) variant details
- p.Arg40His
- cosmic curated COSV10584
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.33
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available