V56D (p.Val56Asp) variant of GBA1 (P04062)
V56D (p.Val56Asp) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gaucher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
V56D (p.Val56Asp) variant details
- p.Val56Asp
- rs878853318
- ClinGen CA342728175
- ClinVar RCV001279992
- Ensembl rs878853318
- Uncertain significance
- Gaucher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- AlphaMissense 0.50
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.73
- ClinVar: Uncertain significance (Gaucher disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)