L53F (p.Leu53Phe) variant of MERTK (Tyrosine-protein kinase Mer)
L53F (p.Leu53Phe) in MERTK (Tyrosine-protein kinase Mer) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L53F (p.Leu53Phe) variant details
- p.Leu53Phe
- gnomAD 2-111929212-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.27
- CADD 17.60
- Population evidence available
- Structural context available
- Literature evidence available