L34H (p.Leu34His) variant of MERTK (Tyrosine-protein kinase Mer)
L34H (p.Leu34His) in MERTK (Tyrosine-protein kinase Mer) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L34H (p.Leu34His) variant details
- p.Leu34His
- rs1232588665
- gnomAD 2-111929158-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 8.55
- Population evidence available
- Structural context available
- Literature evidence available