D1453V (p.Asp1453Val) variant of SPTBN2 (O15020)
D1453V (p.Asp1453Val) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia type 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature.
D1453V (p.Asp1453Val) variant details
- p.Asp1453Val
- rs1940772032
- ClinGen CA381470281
- ClinVar RCV001330335
- Ensembl rs1940772032
- Likely pathogenic
- Spinocerebellar ataxia type 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- AlphaMissense 0.16
- MetaLR 0.07
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.17
- EVE 0.34
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)