D169G (p.Asp169Gly) variant of TARDBP (TAR DNA-binding protein 43)
D169G (p.Asp169Gly) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Amyotrophic lateral sclerosis type 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature.
D169G (p.Asp169Gly) variant details
- p.Asp169Gly
- rs80356717
- Pathogenic
- Amyotrophic lateral sclerosis type 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.90
- MetaLR 0.73
- MetaSVM 0.68
- PolyPhen-2 0.64
- SIFT 0.03
- EVE 0.24
- ClinVar: Pathogenic (Amyotrophic lateral sclerosis type 10)
- UniProt: Pathogenic (in ALS10)
- Cited in: TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia. (PMID 20301761)
- Cited in: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. (PMID 18372902)