A3T (p.Ala3Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A3T (p.Ala3Thr) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD 11-2445105-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.82
- MetaSVM 0.31
- CADD 13.40
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available