T2S (p.Thr2Ser) variant of GNAQ (P50148)
T2S (p.Thr2Ser) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T2S (p.Thr2Ser) variant details
- p.Thr2Ser
- ExAC rs780163661
- TOPMed rs780163661
- gnomAD rs780163661
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.33
- MetaLR 0.40
- MetaSVM -0.54
- CADD 15.20
- PolyPhen-2 0.08
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 4e-05)
- Structural context available