A3S (p.Ala3Ser) variant of PKP2 (Plakophilin-2)
A3S (p.Ala3Ser) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs2541385290
- ClinGen CA384371825
- ClinVar RCV003482057
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- MetaLR 0.28
- MetaSVM -0.80
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available