G294V (p.Gly294Val) variant of TARDBP (TAR DNA-binding protein 43)
G294V (p.Gly294Val) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED; Amyotro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G294V (p.Gly294Val) variant details
- p.Gly294Val
- rs80356721
- Pathogenic/Likely pathogenic
- FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED; Amyotro
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.53
- MetaLR 0.63
- MetaSVM 0.12
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.32
- ClinVar: Pathogenic/Likely pathogenic (FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-)
- UniProt: Likely pathogenic (in ALS10)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects. (PMID 35260199)
- Cited in: TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. (PMID 20301761)