R41H (p.Arg41His) variant of GBA1 (P04062)
R41H (p.Arg41His) in GBA1 (P04062) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- ExAC rs751095441
- gnomAD rs751095441
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.24
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available