G12D (p.Gly12Asp) variant of KCNQ4 (P56696)
G12D (p.Gly12Asp) 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.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- ExAC rs777816150
- gnomAD rs777816150
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.48
- MetaLR 0.74
- MetaSVM 0.46
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.19
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available