P31L (p.Pro31Leu) variant of MERTK (Tyrosine-protein kinase Mer)
P31L (p.Pro31Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs1167524389
- ClinGen CA348225909
- ClinVar RCV002037151
- TOPMed rs1167524389
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.91
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available