R83H (p.Arg83His) variant of GBA1 (P04062)
R83H (p.Arg83His) in GBA1 (P04062) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not specified; Gaucher disease-ophthalmoplegia-cardiovascular calcification synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R83H (p.Arg83His) variant details
- p.Arg83His
- cosmic curated COSV10051
- ExAC rs765182795
- TOPMed rs765182795
- gnomAD rs765182795
- Conflicting interpretations
- not specified; Gaucher disease-ophthalmoplegia-cardiovascular calcification synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.36
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Gaucher disease-ophthalmoplegia-cardiovascular ca)
- UniProt: Conflicting interpretations
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available