N2S (p.Asn2Ser) variant of PKP1 (Plakophilin-1)
N2S (p.Asn2Ser) in PKP1 (Plakophilin-1) is a missense change. 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.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD rs1249234066
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.13
- CADD 19.60
- PolyPhen-2 0.14
- SIFT 0.77
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available