M274I (p.Met274Ile) variant of SETX (Helicase senataxin)
M274I (p.Met274Ile) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in SCAN2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
M274I (p.Met274Ile) variant details
- p.Met274Ile
- rs997473183
- Ensembl rs997473183
- ClinVar RCV000002384
- UniProt VAR 036646
- no classification for the single variant
- in SCAN2
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.25
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: no classification for the single variant (in SCAN2)
- EBI: Pathogenic (in SCAN2)
- UniProt: Pathogenic (in SCAN2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX. (PMID 16717225)
- Cited in: Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2. (PMID 14770181)