N390S (p.Asn390Ser) variant of TARDBP (TAR DNA-binding protein 43)
N390S (p.Asn390Ser) in TARDBP (TAR DNA-binding protein 43) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Amyotrophic lateral sclerosis type 10. 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.
N390S (p.Asn390Ser) variant details
- p.Asn390Ser
- rs80356742
- Conflicting interpretations
- Inborn genetic diseases; not provided; Amyotrophic lateral sclerosis type 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.37
- MetaLR 0.62
- MetaSVM 0.14
- CADD 23.40
- PolyPhen-2 0.90
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Amyotrophic lateral scler)
- UniProt: Conflicting interpretations (in ALS10)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Cited in: TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. (PMID 18372902)