A4T (p.Ala4Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A4T (p.Ala4Thr) 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 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- rs1436016866
- gnomAD 11-2444695-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 6.97
- SIFT 0.01
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available