H47R (p.His47Arg) variant of MERTK (Tyrosine-protein kinase Mer)
H47R (p.His47Arg) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- Ensembl rs1558775220
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.15
- MetaLR 0.16
- MetaSVM -0.98
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available