D38G (p.Asp38Gly) variant of KCNJ5 (P48544)
D38G (p.Asp38Gly) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
D38G (p.Asp38Gly) variant details
- p.Asp38Gly
- gnomAD 11-128911386-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.49
- MetaLR 0.62
- MetaSVM -0.10
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available