R54G (p.Arg54Gly) variant of KCNJ11 (Q14654)
R54G (p.Arg54Gly) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- gnomAD 11-17387932-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available