R19L (p.Arg19Leu) variant of MERTK (Tyrosine-protein kinase Mer)
R19L (p.Arg19Leu) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- rs1017599113
- ClinGen CA53582099
- ClinVar RCV001913799
- ClinVar RCV004756315
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.06
- MetaLR 0.16
- MetaSVM -1.00
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available