F311L (p.Phe311Leu) variant of ABL1 (Tyrosine-protein kinase ABL1)
F311L (p.Phe311Leu) in ABL1 (Tyrosine-protein kinase ABL1) 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 0.42 / 1. The record also includes published literature and structural context.
F311L (p.Phe311Leu) variant details
- p.Phe311Leu
- rs2132996852
- ClinGen CA375249393
- ClinVar RCV001988326
- Ensembl rs2132996852
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- AlphaMissense 1.00
- MetaLR 0.12
- MetaSVM -0.73
- PolyPhen-2 0.74
- SIFT 0.06
- EVE 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Several types of mutations of the Abl gene can be found in chronic myeloid leukemia patients resistant to STI571, and… (PMID 12130516)