R31W (p.Arg31Trp) variant of ABL1 (Tyrosine-protein kinase ABL1)
R31W (p.Arg31Trp) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- 1000Genomes rs202235231
- ExAC rs202235231
- TOPMed rs202235231
- gnomAD rs202235231
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.31
- MetaLR 0.15
- MetaSVM -0.88
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available