E28K (p.Glu28Lys) variant of MERTK (Tyrosine-protein kinase Mer)
E28K (p.Glu28Lys) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- ExAC rs748203904
- TOPMed rs748203904
- gnomAD rs748203904
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.10
- MetaLR 0.27
- MetaSVM -0.78
- CADD 21.60
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available