G16E (p.Gly16Glu) variant of KCNQ4 (P56696)
G16E (p.Gly16Glu) in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- gnomAD 1-40784140-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.43
- MetaLR 0.81
- MetaSVM 0.65
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.6e-06)
- Structural context available
- Literature evidence available