G46D (p.Gly46Asp) variant of KCNJ5 (P48544)
G46D (p.Gly46Asp) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- gnomAD 11-128911410-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.23
- MetaLR 0.48
- MetaSVM -0.49
- CADD 18.20
- PolyPhen-2 0.05
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available