V34M (p.Val34Met) variant of GBA1 (P04062)
V34M (p.Val34Met) in GBA1 (P04062) is a missense change. Clinical records from ClinVar 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 0.30 / 1. The record also includes population frequency data and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- ExAC rs768854161
- TOPMed rs768854161
- gnomAD rs768854161
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.34
- CADD 15.70
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available