M124V (p.Met124Val) variant of GBA1 (P04062)
M124V (p.Met124Val) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gaucher disease type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M124V (p.Met124Val) variant details
- p.Met124Val
- ExAC rs758455177
- TOPMed rs758455177
- gnomAD rs758455177
- Uncertain significance
- Gaucher disease type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.49
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (Gaucher disease type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available