F37L (p.Phe37Leu) variant of ABL1 (Tyrosine-protein kinase ABL1)
F37L (p.Phe37Leu) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. Clinical records from ClinVar 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 0.17 / 1. The record also includes population frequency data and structural context.
F37L (p.Phe37Leu) variant details
- p.Phe37Leu
- TOPMed rs1830934296
- gnomAD rs1830934296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.18
- MetaLR 0.04
- MetaSVM -1.03
- CADD 11.30
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available