P40L (p.Pro40Leu) variant of MERTK (Tyrosine-protein kinase Mer)
P40L (p.Pro40Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- rs1684622333
- ClinGen CA348225964
- cosmic curated COSV54925
- ClinVar RCV001244024
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.24
- MetaLR 0.46
- MetaSVM -0.55
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available