A129T (p.Ala129Thr) variant of GBA1 (P04062)
A129T (p.Ala129Thr) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A129T (p.Ala129Thr) variant details
- p.Ala129Thr
- rs1671971599
- ClinGen CA342726101
- ClinVar RCV003236457
- gnomAD rs1671971599
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.75
- CADD 19.10
- PolyPhen-2 0.33
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (PMID 10796875)
- Cited in: A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online. (PMID 10206680)