G82V (p.Gly82Val) variant of SETX (Helicase senataxin)
G82V (p.Gly82Val) in SETX (Helicase senataxin) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G82V (p.Gly82Val) variant details
- p.Gly82Val
- 1000Genomes rs201864041
- ExAC rs201864041
- TOPMed rs201864041
- gnomAD rs201864041
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.37
- CADD 22.70
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available