N24D (p.Asn24Asp) variant of SETX (Helicase senataxin)
N24D (p.Asn24Asp) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
N24D (p.Asn24Asp) variant details
- p.Asn24Asp
- TOPMed rs1403460462
- gnomAD rs1403460462
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.11
- CADD 6.67
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available