G290A (p.Gly290Ala) variant of TARDBP (TAR DNA-binding protein 43)
G290A (p.Gly290Ala) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G290A (p.Gly290Ala) variant details
- p.Gly290Ala
- rs121908395
- Uncertain significance
- FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED; Amyotro
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.54
- MetaLR 0.53
- MetaSVM -0.14
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-)
- UniProt: Uncertain significance (in ALS10)
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. (PMID 18396105)