A16V (p.Ala16Val) variant of FUS (RNA-binding protein FUS)
A16V (p.Ala16Val) in FUS (RNA-binding protein FUS) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; Amyotrophic lateral sclerosis type 6; Tremor, hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs139980267
- ClinGen CA8023436
- ClinVar RCV002099375
- ClinVar RCV002337173
- Likely benign
- Inborn genetic diseases; Amyotrophic lateral sclerosis type 6; Tremor, hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.45
- CADD 23.20
- PolyPhen-2 0.32
- SIFT 0.12
- ClinVar: Likely benign (Inborn genetic diseases; Amyotrophic lateral sclerosis type 6; T)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)