A4P (p.Ala4Pro) variant of MERTK (Tyrosine-protein kinase Mer)
A4P (p.Ala4Pro) in MERTK (Tyrosine-protein kinase Mer) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- rs1402909136
- gnomAD 2-111898743-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available