T76A (p.Thr76Ala) variant of GNAQ (P50148)
T76A (p.Thr76Ala) 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.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- ExAC rs768341234
- gnomAD rs768341234
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.42
- MetaLR 0.52
- MetaSVM -0.20
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available