A2G (p.Ala2Gly) variant of KCNJ5 (P48544)
A2G (p.Ala2Gly) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- gnomAD 11-128911278-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.41
- MetaLR 0.71
- MetaSVM 0.07
- CADD 21.90
- PolyPhen-2 0.45
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available