D69E (p.Asp69Glu) variant of GNAQ (P50148)
D69E (p.Asp69Glu) in GNAQ (P50148) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D69E (p.Asp69Glu) variant details
- p.Asp69Glu
- gnomAD rs1256109740
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.34
- MetaLR 0.34
- MetaSVM -0.72
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available