G71D (p.Gly71Asp) variant of KCNQ3 (O43525)
G71D (p.Gly71Asp) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
G71D (p.Gly71Asp) variant details
- p.Gly71Asp
- rs2537398343
- ClinGen CA372292669
- ClinVar RCV003329904
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.56
- CADD 23.80
- PolyPhen-2 0.28
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available