D13E (p.Asp13Glu) variant of BCL2L11 (Bcl-2-like protein 11)
D13E (p.Asp13Glu) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
D13E (p.Asp13Glu) variant details
- p.Asp13Glu
- 1000Genomes rs112446582
- ESP rs112446582
- ExAC rs112446582
- TOPMed rs112446582
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.07
- MetaLR 0.15
- MetaSVM -0.74
- CADD 20.00
- PolyPhen-2 0.01
- SIFT 0.25
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)