A321V (p.Ala321Val) variant of TARDBP (TAR DNA-binding protein 43)
A321V (p.Ala321Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
A321V (p.Ala321Val) variant details
- p.Ala321Val
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.48
- MetaLR 0.73
- MetaSVM 0.19
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Cited in: Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. (PMID 19760257)