L53R (p.Leu53Arg) variant of MERTK (Tyrosine-protein kinase Mer)
L53R (p.Leu53Arg) 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, published literature, and structural context.
L53R (p.Leu53Arg) variant details
- p.Leu53Arg
- gnomAD 2-111929216-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.15
- MetaLR 0.17
- MetaSVM -0.98
- CADD 0.93
- PolyPhen-2 0.00
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available