A139P (p.Ala139Pro) variant of GBA1 (P04062)
A139P (p.Ala139Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
A139P (p.Ala139Pro) variant details
- p.Ala139Pro
- rs878853314
- ClinGen CA10581620
- ClinVar RCV000225581
- TOPMed rs878853314
- Likely pathogenic
- Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- AlphaMissense 0.11
- MetaLR 0.88
- MetaSVM 0.61
- PolyPhen-2 0.09
- SIFT 0.17
- EVE 0.21
- ClinVar: Likely pathogenic (Gaucher disease type I)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)