R17G (p.Arg17Gly) variant of GBA1 (P04062)
R17G (p.Arg17Gly) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R17G (p.Arg17Gly) variant details
- p.Arg17Gly
- ESP rs139626710
- ExAC rs139626710
- TOPMed rs139626710
- gnomAD rs139626710
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.24
- CADD 8.04
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available