I6T (p.Ile6Thr) variant of GNAQ (P50148)
I6T (p.Ile6Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I6T (p.Ile6Thr) variant details
- p.Ile6Thr
- TOPMed rs1264916735
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.32
- MetaLR 0.32
- MetaSVM -0.70
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available