D17E (p.Asp17Glu) variant of KCNQ4 (P56696)
D17E (p.Asp17Glu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- gnomAD 1-40784144-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- MetaLR 0.81
- MetaSVM 0.60
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available
- Literature evidence available