P15L (p.Pro15Leu) variant of MERTK (Tyrosine-protein kinase Mer)
P15L (p.Pro15Leu) in MERTK (Tyrosine-protein kinase Mer) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- Ensembl rs1573554231
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -1.00
- CADD 9.36
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available