I299T (p.Ile299Thr) variant of GBA1 (P04062)
I299T (p.Ile299Thr) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Parkinson disease, late-onset; Gaucher disease type I; Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
I299T (p.Ile299Thr) variant details
- p.Ile299Thr
- rs794727908
- ClinGen CA275428
- ClinVar RCV000180196
- ClinVar RCV001248862
- Likely pathogenic
- Parkinson disease, late-onset; Gaucher disease type I; Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.93
- AlphaMissense 0.64
- MetaLR 0.98
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 0.84
- ClinVar: Likely pathogenic (Parkinson disease, late-onset; Gaucher disease type I; Gaucher d)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- 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)