R78H (p.Arg78His) variant of GBA1 (P04062)
R78H (p.Arg78His) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R78H (p.Arg78His) variant details
- p.Arg78His
- cosmic curated COSV59170
- ExAC rs752857428
- TOPMed rs752857428
- gnomAD rs752857428
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.66
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available