G84D (p.Gly84Asp) variant of KCNQ3 (O43525)
G84D (p.Gly84Asp) in KCNQ3 (O43525) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
G84D (p.Gly84Asp) variant details
- p.Gly84Asp
- ExAC rs781753428
- gnomAD rs781753428
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.03
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available