E127D (p.Glu127Asp) variant of SETX (Helicase senataxin)
E127D (p.Glu127Asp) in SETX (Helicase senataxin) 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 0.40 / 1. The record also includes population frequency data and structural context.
E127D (p.Glu127Asp) variant details
- p.Glu127Asp
- rs1296707786
- ClinGen CA375351024
- ClinVar RCV001508274
- gnomAD rs1296707786
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.31
- CADD 23.20
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available