R9P (p.Arg9Pro) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9P (p.Arg9Pro) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R9P (p.Arg9Pro) variant details
- p.Arg9Pro
- rs1301581842
- gnomAD 11-2444693-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.17
- CADD 4.76
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Literature evidence available