P8S (p.Pro8Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P8S (p.Pro8Ser) 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 0.45 / 1. The record also includes population frequency data and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- gnomAD rs1846014477
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.91
- MetaSVM 0.80
- CADD 18.50
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available