A16R (p.Ala16Arg) variant of MERTK (Tyrosine-protein kinase Mer)
A16R (p.Ala16Arg) in MERTK (Tyrosine-protein kinase Mer) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A16R (p.Ala16Arg) variant details
- p.Ala16Arg
- gnomAD 2-111898780-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available