V161G (p.Val161Gly) variant of SETX (Helicase senataxin)
V161G (p.Val161Gly) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spastic ataxia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
V161G (p.Val161Gly) variant details
- p.Val161Gly
- rs1848052674
- ClinGen CA375350279
- ClinVar RCV001647247
- gnomAD rs1848052674
- Likely pathogenic
- Spastic ataxia
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.67
- CADD 27.80
- ClinVar: Likely pathogenic (Spastic ataxia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available