R30G (p.Arg30Gly) variant of KCNJ5 (P48544)
R30G (p.Arg30Gly) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- gnomAD 11-128911361-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.62
- MetaLR 0.76
- MetaSVM 0.59
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available