P19S (p.Pro19Ser) variant of KCNQ4 (P56696)
P19S (p.Pro19Ser) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- TOPMed rs1570792829
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.31
- MetaLR 0.70
- MetaSVM 0.13
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available