R41L (p.Arg41Leu) variant of GBA1 (P04062)
R41L (p.Arg41Leu) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- rs751095441
- ClinGen CA1141837
- ClinVar RCV000994121
- ExAC rs751095441
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.31
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available