N66S (p.Asn66Ser) variant of PKP1 (Plakophilin-1)
N66S (p.Asn66Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N66S (p.Asn66Ser) variant details
- p.Asn66Ser
- TOPMed rs1261682384
- gnomAD rs1261682384
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.05
- CADD 19.00
- PolyPhen-2 0.23
- SIFT 0.86
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available