R25G (p.Arg25Gly) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R25G (p.Arg25Gly) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- gnomAD 11-2445168-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.694
- CADD 26.00
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Literature evidence available