D17G (p.Asp17Gly) variant of KCNQ3 (O43525)
D17G (p.Asp17Gly) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- ExAC rs763797355
- gnomAD rs763797355
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.40
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available