S16G (p.Ser16Gly) variant of GBA1 (P04062)
S16G (p.Ser16Gly) in GBA1 (P04062) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- rs1141804
- ClinGen CA30896585
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.25
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.07
- CADD 5.02
- PolyPhen-2 0.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available