P19H (p.Pro19His) variant of KCNQ4 (P56696)
P19H (p.Pro19His) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- gnomAD 1-40784149-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.34
- MetaLR 0.81
- MetaSVM 0.52
- CADD 18.20
- PolyPhen-2 0.02
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available