N267S (p.Asn267Ser) variant of TARDBP (TAR DNA-binding protein 43)
N267S (p.Asn267Ser) 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 Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
N267S (p.Asn267Ser) variant details
- p.Asn267Ser
- rs80356718
- Conflicting interpretations
- Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGENERATION WITH TD
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- MetaLR 0.35
- MetaSVM -0.65
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Amyotrophic lateral sclerosis type 10; FRONTOTEMPORAL LOBAR DEGE)
- UniProt: Conflicting interpretations (in ALS10)
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Cited in: The QChip1 knowledgebase and microarray for precision medicine in Qatar. (PMID 35046417)
- Cited in: High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. (PMID 19224587)