S6R (p.Ser6Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S6R (p.Ser6Arg) 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.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- gnomAD 11-2444704-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.26
- CADD 7.69
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available