E3G (p.Glu3Gly) variant of KCNQ4 (P56696)
E3G (p.Glu3Gly) 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.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD 1-40784101-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.21
- MetaLR 0.79
- MetaSVM 0.31
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 6.8e-06)
- Structural context available
- Literature evidence available