G287S (p.Gly287Ser) variant of TARDBP (TAR DNA-binding protein 43)
G287S (p.Gly287Ser) 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 not provided; Amyotrophic lateral sclerosis type 10; Motor neuron disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and published literature.
G287S (p.Gly287Ser) variant details
- p.Gly287Ser
- rs80356719
- Pathogenic/Likely pathogenic
- not provided; Amyotrophic lateral sclerosis type 10; Motor neuron disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.42
- MetaLR 0.49
- MetaSVM -0.24
- CADD 24.10
- PolyPhen-2 0.08
- SIFT 0.54
- ClinVar: Pathogenic/Likely pathogenic (not provided; Amyotrophic lateral sclerosis type 10; Motor neuro)
- UniProt: Likely pathogenic (in ALS10)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Cited in: A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK. (PMID 28430856)
- Cited in: Genetic epidemiology of motor neuron disease-associated variants in the Scottish population. (PMID 28089114)