T96S (p.Thr96Ser) variant of GNAQ (P50148)
T96S (p.Thr96Ser) 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 0.42 / 1. The record also includes population frequency data and structural context.
T96S (p.Thr96Ser) variant details
- p.Thr96Ser
- rs753716491
- NCI-TCGA Cosmic COSV5410
- ExAC rs753716491
- gnomAD rs753716491
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.30
- MetaLR 0.54
- MetaSVM -0.19
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.0083)
- Structural context available