A10S (p.Ala10Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A10S (p.Ala10Ser) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- gnomAD 11-2445126-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.90
- MetaSVM 0.74
- CADD 11.70
- Most common in the HGDP:SARDINIAN population (allele frequency 0.056)
- Structural context available
- Literature evidence available