R19S (p.Arg19Ser) variant of MERTK (Tyrosine-protein kinase Mer)
R19S (p.Arg19Ser) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- gnomAD 2-111898790-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -0.98
- CADD 7.17
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available