D17E (p.Asp17Glu) variant of BCR (P11274)
D17E (p.Asp17Glu) in BCR (P11274) 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 0.18 / 1. The record also includes population frequency data and structural context.
D17E (p.Asp17Glu) variant details
- p.Asp17Glu
- ExAC rs758542346
- TOPMed rs758542346
- gnomAD rs758542346
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.06
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available