K30N (p.Lys30Asn) variant of PKP1 (Plakophilin-1)
K30N (p.Lys30Asn) 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 0.22 / 1. The record also includes population frequency data and structural context.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- rs1322769789
- TOPMed rs1322769789
- gnomAD rs1322769789
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.08
- CADD 23.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available