A2V (p.Ala2Val) variant of KCNJ5 (P48544)
A2V (p.Ala2Val) in KCNJ5 (P48544) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- Ensembl rs1944492751
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.42
- MetaLR 0.62
- MetaSVM -0.10
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.05
- ClinVar: Uncertain significance (Long QT syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available