K112N (p.Lys112Asn) variant of PKP2 (Plakophilin-2)
K112N (p.Lys112Asn) in PKP2 (Plakophilin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K112N (p.Lys112Asn) variant details
- p.Lys112Asn
- UniProt VAR 070277
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.28
- MetaLR 0.52
- MetaSVM -0.02
- CADD 33.00
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available