S6P (p.Ser6Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S6P (p.Ser6Pro) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- gnomAD 11-2445111-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available