G84A (p.Gly84Ala) variant of KCNQ3 (O43525)
G84A (p.Gly84Ala) 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 0.49 / 1. The record also includes population frequency data and structural context.
G84A (p.Gly84Ala) variant details
- p.Gly84Ala
- ExAC rs781753428
- gnomAD rs781753428
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.41
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.36
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available