A10D (p.Ala10Asp) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A10D (p.Ala10Asp) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A10D (p.Ala10Asp) variant details
- p.Ala10Asp
- rs886048161
- ClinGen CA10638245
- ClinVar RCV000263850
- ClinVar RCV000267409
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.34
- ESM-1b 0.05
- AlphaMissense 0.11
- MetaLR 0.92
- MetaSVM 0.84
- CADD 15.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)