M124R (p.Met124Arg) variant of GBA1 (P04062)
M124R (p.Met124Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Gaucher disease type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
M124R (p.Met124Arg) variant details
- p.Met124Arg
- ExAC rs753816998
- Likely pathogenic
- Gaucher disease type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.83
- CADD 25.10
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Likely pathogenic (Gaucher disease type II)
- UniProt: Likely pathogenic
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available