E27G (p.Glu27Gly) variant of MERTK (Tyrosine-protein kinase Mer)
E27G (p.Glu27Gly) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- TOPMed rs1480349594
- gnomAD rs1480349594
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.12
- MetaLR 0.27
- MetaSVM -0.78
- CADD 21.40
- SIFT 0.13
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available