T85M (p.Thr85Met) variant of GNAQ (P50148)
T85M (p.Thr85Met) in GNAQ (P50148) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T85M (p.Thr85Met) variant details
- p.Thr85Met
- rs761634659
- NCI-TCGA Cosmic COSV5411
- ExAC rs761634659
- gnomAD rs761634659
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.41
- MetaLR 0.52
- MetaSVM -0.32
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.45
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available