A90V (p.Ala90Val) variant of TARDBP (TAR DNA-binding protein 43)
A90V (p.Ala90Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Amyotrophic lateral sclerosis type 10; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- rs80356715
- Conflicting interpretations
- not provided; Amyotrophic lateral sclerosis type 10; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.17
- MetaLR 0.52
- MetaSVM -0.18
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not provided; Amyotrophic lateral sclerosis type 10; Inborn gene)
- UniProt: Conflicting interpretations (in dbSNP:rs80356715)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. (PMID 28430856)
- Cited in: Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. (PMID 25239657)