G49S (p.Gly49Ser) variant of GBA1 (P04062)
G49S (p.Gly49Ser) 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; Gaucher disease perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G49S (p.Gly49Ser) variant details
- p.Gly49Ser
- rs760930573
- ClinGen CA1141828
- cosmic curated COSV59169
- ClinVar RCV001329067
- Uncertain significance
- not provided; Gaucher disease perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.67
- CADD 23.70
- PolyPhen-2 0.47
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Gaucher disease perinatal lethal)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Gaucher Disease. (PMID 20301446)