N144S (p.Asn144Ser) variant of SETX (Helicase senataxin)
N144S (p.Asn144Ser) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Amyotrophic lateral sclerosis type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
N144S (p.Asn144Ser) variant details
- p.Asn144Ser
- rs767453182
- ClinGen CA5298042
- ClinVar RCV000644846
- ClinVar RCV001167587
- Conflicting interpretations
- Inborn genetic diseases; not specified; Amyotrophic lateral sclerosis type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.30
- CADD 24.30
- PolyPhen-2 0.88
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Amyotrophic lateral scle)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)