P21S (p.Pro21Ser) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P21S (p.Pro21Ser) 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 and structural context.
P21S (p.Pro21Ser) variant details
- p.Pro21Ser
- ExAC rs761696769
- gnomAD rs761696769
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.81
- MetaSVM 0.39
- CADD 15.00
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available