P21A (p.Pro21Ala) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P21A (p.Pro21Ala) 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 0.36 / 1. The record also includes population frequency data and structural context.
P21A (p.Pro21Ala) variant details
- p.Pro21Ala
- ExAC rs761696769
- gnomAD rs761696769
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.84
- MetaSVM 0.45
- CADD 14.40
- Population evidence available
- Structural context available