D34N (p.Asp34Asn) variant of SETX (Helicase senataxin)
D34N (p.Asp34Asn) 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 0.11 / 1. The record also includes population frequency data and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- rs555364587
- ClinGen CA5298131
- ClinVar RCV003482861
- 1000Genomes rs555364587
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.112
- REVEL 0.14
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available