R25R (p.Arg25Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R25R (p.Arg25Arg) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R25R (p.Arg25Arg) variant details
- p.Arg25Arg
- gnomAD 11-2445171-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 14.70
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Literature evidence available