F37V (p.Phe37Val) variant of ABL1 (Tyrosine-protein kinase ABL1)
F37V (p.Phe37Val) 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 0.34 / 1. The record also includes population frequency data and structural context.
F37V (p.Phe37Val) variant details
- p.Phe37Val
- rs1830934244
- ClinGen CA375256333
- ClinVar RCV001961630
- Ensembl rs1830934244
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.21
- MetaLR 0.05
- MetaSVM -1.06
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available