A2T (p.Ala2Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A2T (p.Ala2Thr) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs2133559329
- ClinGen CA379115676
- ClinVar RCV001358438
- Ensembl rs2133559329
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.88
- MetaSVM 0.76
- CADD 18.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance (in LQT1)
- UniProt: Uncertain significance (in LQT1)
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available