R183Q (p.Arg183Gln) variant of GNAQ (P50148)
R183Q (p.Arg183Gln) in GNAQ (P50148) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of GNAQ-related disorder; Angioosteohypertrophic syndrome; Capillary malformation. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
R183Q (p.Arg183Gln) variant details
- p.Arg183Gln
- rs397514698
- ClinGen CA143805
- NCI-TCGA Cosmic COSV5410
- Pathogenic/Likely pathogenic
- GNAQ-related disorder; Angioosteohypertrophic syndrome; Capillary malformation
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic/Likely pathogenic (GNAQ-related disorder; Angioosteohypertrophic syndrome; Capillar)
- EBI: Pathogenic (in SWS)
- UniProt: Pathogenic (in SWS)
- Structural context available
- Cited in: GNAQ and GNA11 mutations in melanocytomas of the central nervous system. (PMID 22307269)
- Cited in: Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. (PMID 23656586)