Q209H (p.Gln209His) variant of GNAQ (P50148)
Q209H (p.Gln209His) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes structural context.
Q209H (p.Gln209His) variant details
- p.Gln209His
- rs2118444312
- ClinGen CA373997883
- ClinVar RCV001526533
- ClinVar RCV002254353
- Pathogenic
- Familial multiple nevi flammei; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.89
- PolyPhen-2 0.91
- SIFT 0.01
- EVE 0.77
- ClinVar: Pathogenic (Familial multiple nevi flammei; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available