E115K (p.Glu115Lys) variant of GNAQ (P50148)
E115K (p.Glu115Lys) 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.
E115K (p.Glu115Lys) variant details
- p.Glu115Lys
- gnomAD rs1425322060
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.43
- MetaLR 0.46
- MetaSVM -0.37
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available