K49R (p.Lys49Arg) variant of SETX (Helicase senataxin)
K49R (p.Lys49Arg) 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 provided; Spinocerebellar ataxia, autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
K49R (p.Lys49Arg) variant details
- p.Lys49Arg
- rs142551293
- ClinGen CA5298125
- ClinVar RCV001287948
- ClinVar RCV003166620
- Conflicting interpretations
- Inborn genetic diseases; not provided; Spinocerebellar ataxia, autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.10
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Spinocerebellar ataxia, a)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- 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)