G6V (p.Gly6Val) variant of KCNJ11 (Q14654)
G6V (p.Gly6Val) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- gnomAD 11-17388075-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.62
- CADD 26.50
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available