P30S (p.Pro30Ser) variant of ABL2 (Tyrosine-protein kinase ABL2)
P30S (p.Pro30Ser) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- 1000Genomes rs558319702
- ExAC rs558319702
- TOPMed rs558319702
- gnomAD rs558319702
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.13
- CADD 22.50
- PolyPhen-2 0.05
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available