G6C (p.Gly6Cys) variant of KCNJ11 (Q14654)
G6C (p.Gly6Cys) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
G6C (p.Gly6Cys) variant details
- p.Gly6Cys
- gnomAD 11-17388076-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.65
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available