R19H (p.Arg19His) variant of MERTK (Tyrosine-protein kinase Mer)
R19H (p.Arg19His) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- TOPMed rs1017599113
- gnomAD rs1017599113
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.99
- CADD 12.10
- PolyPhen-2 0.05
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available