L9R (p.Leu9Arg) variant of MERTK (Tyrosine-protein kinase Mer)
L9R (p.Leu9Arg) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L9R (p.Leu9Arg) variant details
- p.Leu9Arg
- gnomAD 2-111898761-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.35
- MetaLR 0.19
- MetaSVM -0.88
- CADD 23.40
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available