G48V (p.Gly48Val) variant of GNAQ (P50148)
G48V (p.Gly48Val) in GNAQ (P50148) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Sturge-Weber syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
G48V (p.Gly48Val) variant details
- p.Gly48Val
- rs2118276763
- ClinGen CA373997226
- NCI-TCGA Cosmic COSV9968
- ClinVar RCV002254468
- Pathogenic/Likely pathogenic
- Sturge-Weber syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (Sturge-Weber syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available