S6C (p.Ser6Cys) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S6C (p.Ser6Cys) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- gnomAD 11-2445115-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.95
- MetaSVM 0.86
- CADD 23.90
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available