L17V (p.Leu17Val) variant of MERTK (Tyrosine-protein kinase Mer)
L17V (p.Leu17Val) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L17V (p.Leu17Val) variant details
- p.Leu17Val
- gnomAD 2-111898784-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.97
- CADD 2.33
- PolyPhen-2 0.09
- SIFT 0.35
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available