G8C (p.Gly8Cys) variant of KCNQ2 (O43526)
G8C (p.Gly8Cys) in KCNQ2 (O43526) 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 0.65 / 1. The record also includes population frequency data and structural context.
G8C (p.Gly8Cys) variant details
- p.Gly8Cys
- rs769045070
- ClinGen CA317424015
- ClinVar RCV000522438
- ExAC rs769045070
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.59
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available