R183G (p.Arg183Gly) variant of GNAQ (P50148)
R183G (p.Arg183Gly) in GNAQ (P50148) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial multiple nevi flammei. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
R183G (p.Arg183Gly) variant details
- p.Arg183Gly
- rs1826677470
- ClinGen CA373998076
- ClinVar RCV003445402
- Ensembl rs1826677470
- Pathogenic
- Familial multiple nevi flammei
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Pathogenic (Familial multiple nevi flammei)
- EBI: Pathogenic (in SWS)
- UniProt: Pathogenic (in SWS)
- Structural context available