L12F (p.Leu12Phe) variant of MERTK (Tyrosine-protein kinase Mer)
L12F (p.Leu12Phe) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- rs755593299
- ClinGen CA1830945
- ClinVar RCV001939105
- ExAC rs755593299
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -0.99
- CADD 6.91
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available