G348V (p.Gly348Val) variant of TARDBP (TAR DNA-binding protein 43)
G348V (p.Gly348Val) 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 Motor neuron disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
G348V (p.Gly348Val) variant details
- p.Gly348Val
- Pathogenic
- Motor neuron disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.55
- MetaLR 0.62
- MetaSVM 0.10
- CADD 22.50
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Pathogenic (Motor neuron disease)
- UniProt: Pathogenic (in ALS10)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Cited in: Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. (PMID 19760257)
- Cited in: Peptidylprolyl isomerase A governs TARDBP function and assembly in heterogeneous nuclear ribonucleoprotein complexes. (PMID 25678563)