N76S (p.Asn76Ser) variant of PKP2 (Plakophilin-2)
N76S (p.Asn76Ser) in PKP2 (Plakophilin-2) 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, published literature, and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- rs1201224837
- UniProt VAR 070276
- Ensembl rs1201224837
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.12
- MetaLR 0.19
- MetaSVM -0.95
- CADD 14.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available