T2I (p.Thr2Ile) variant of GNAQ (P50148)
T2I (p.Thr2Ile) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T2I (p.Thr2Ile) variant details
- p.Thr2Ile
- ExAC rs780163661
- TOPMed rs780163661
- gnomAD rs780163661
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.39
- MetaLR 0.43
- MetaSVM -0.50
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available