P7R (p.Pro7Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P7R (p.Pro7Arg) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- rs1554958030
- gnomAD 11-2445114-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.338
- CADD 24.10
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Literature evidence available