R25Q (p.Arg25Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R25Q (p.Arg25Gln) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- gnomAD 11-2445172-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.92
- MetaSVM 0.90
- CADD 22.70
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available
- Literature evidence available