Y283H (p.Tyr283His) variant of GBA1 (P04062)
Y283H (p.Tyr283His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
Y283H (p.Tyr283His) variant details
- p.Tyr283His
- rs750777791
- ClinGen CA1141668
- ClinVar RCV003226690
- ExAC rs750777791
- Pathogenic/Likely pathogenic
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.89
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)