N47D (p.Asn47Asp) variant of ABL2 (Tyrosine-protein kinase ABL2)
N47D (p.Asn47Asp) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- ExAC rs779772886
- gnomAD rs779772886
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.23
- CADD 24.30
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available