P21Q (p.Pro21Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P21Q (p.Pro21Gln) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P21Q (p.Pro21Gln) variant details
- p.Pro21Gln
- gnomAD 11-2445158-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available