A495P (p.Ala495Pro) variant of GBA1 (P04062)
A495P (p.Ala495Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Parkinson disease, late-onset. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A495P (p.Ala495Pro) variant details
- p.Ala495Pro
- rs368060
- ClinGen CA146980
- cosmic curated COSV10589
- ClinVar RCV000004533
- Conflicting interpretations
- not provided; Parkinson disease, late-onset
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.67
- CADD 12.80
- PolyPhen-2 0.03
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Pathogenic (in GD1)
- UniProt: Pathogenic (in GD1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Type 2 Gaucher disease: the collodion baby phenotype revisited. (PMID 10685993)
- Cited in: Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted… (PMID 1437405)