A8T (p.Ala8Thr) variant of GNAQ (P50148)
A8T (p.Ala8Thr) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD rs1203392784
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.46
- MetaLR 0.54
- MetaSVM -0.07
- CADD 21.20
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available