S235P (p.Ser235Pro) variant of GBA1 (P04062)
S235P (p.Ser235Pro) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S235P (p.Ser235Pro) variant details
- p.Ser235Pro
- rs1064644
- ClinGen CA341581
- ClinVar RCV000020157
- ClinVar RCV000625849
- Pathogenic/Likely pathogenic
- Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Gaucher d
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.62
- CADD 10.70
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Pathogenic/Likely pathogenic (Gaucher disease-ophthalmoplegia-cardiovascular calcification syn)
- EBI: Pathogenic (in GD1 and GD2)
- UniProt: Pathogenic (in GD1 and GD2)
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. (PMID 10649495)
- Cited in: Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. (PMID 10796875)