L17F (p.Leu17Phe) variant of MERTK (Tyrosine-protein kinase Mer)
L17F (p.Leu17Phe) in MERTK (Tyrosine-protein kinase Mer) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- ExAC rs778704547
- gnomAD rs778704547
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.19
- MetaLR 0.23
- MetaSVM -0.86
- CADD 9.99
- PolyPhen-2 0.46
- SIFT 0.33
- Most common in the South Asian population (allele frequency 7.2e-05)
- Structural context available