Q44R (p.Gln44Arg) variant of MERTK (Tyrosine-protein kinase Mer)
Q44R (p.Gln44Arg) in MERTK (Tyrosine-protein kinase Mer) is a missense change. 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.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- ExAC rs764842052
- gnomAD rs764842052
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.09
- MetaLR 0.18
- MetaSVM -0.98
- CADD 3.57
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available