G72C (p.Gly72Cys) variant of KCNQ3 (O43525)
G72C (p.Gly72Cys) 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 0.41 / 1. The record also includes population frequency data and structural context.
G72C (p.Gly72Cys) variant details
- p.Gly72Cys
- ExAC rs759310149
- TOPMed rs759310149
- gnomAD rs759310149
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.36
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available