G6S (p.Gly6Ser) variant of KCNJ11 (Q14654)
G6S (p.Gly6Ser) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- gnomAD rs1325935600
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.33
- CADD 21.80
- PolyPhen-2 0.06
- SIFT 0.46
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available