A24S (p.Ala24Ser) variant of PKP1 (Plakophilin-1)
A24S (p.Ala24Ser) in PKP1 (Plakophilin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD rs1486454180
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.16
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available