P8H (p.Pro8His) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P8H (p.Pro8His) 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P8H (p.Pro8His) variant details
- p.Pro8His
- gnomAD 11-2445121-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.46
- ESM-1b 0.27
- AlphaMissense 0.13
- MetaLR 0.95
- MetaSVM 1.00
- CADD 23.50
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.25)
- Structural context available
- Literature evidence available