G16R (p.Gly16Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
G16R (p.Gly16Arg) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- rs1327458547
- gnomAD 11-2444698-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.28
- CADD 4.78
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available