A16E (p.Ala16Glu) variant of MERTK (Tyrosine-protein kinase Mer)
A16E (p.Ala16Glu) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 2-111898782-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.25
- MetaLR 0.21
- MetaSVM -0.86
- CADD 17.80
- PolyPhen-2 0.40
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available