G39R (p.Gly39Arg) variant of GBA1 (P04062)
G39R (p.Gly39Arg) in GBA1 (P04062) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- Ensembl rs1672024056
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.58
- CADD 33.00
- PolyPhen-2 0.23
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available