P21R (p.Pro21Arg) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P21R (p.Pro21Arg) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- gnomAD 11-2445160-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.86
- MetaSVM 0.55
- CADD 14.70
- Population evidence available
- Structural context available
- Literature evidence available