R9Q (p.Arg9Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9Q (p.Arg9Gln) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs1301581842
- gnomAD 11-2444693-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.23
- CADD 5.17
- SIFT 0.02
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available