I101V (p.Ile101Val) variant of SETX (Helicase senataxin)
I101V (p.Ile101Val) in SETX (Helicase senataxin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
I101V (p.Ile101Val) variant details
- p.Ile101Val
- rs376848704
- ClinGen CA5298086
- ClinVar RCV001315431
- ESP rs376848704
- Benign
- Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessiv
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.13
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Benign (Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, au)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Amyotrophic Lateral Sclerosis Overview. (PMID 20301623)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)