R19C (p.Arg19Cys) variant of MERTK (Tyrosine-protein kinase Mer)
R19C (p.Arg19Cys) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- gnomAD 2-111898790-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.17
- MetaLR 0.10
- MetaSVM -0.95
- CADD 16.00
- PolyPhen-2 0.08
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available