E44D (p.Glu44Asp) variant of BCL2L1 (Bcl-2-like protein 1)
E44D (p.Glu44Asp) in BCL2L1 (Bcl-2-like protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E44D (p.Glu44Asp) variant details
- p.Glu44Asp
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10030
- ExAC rs770213331
- gnomAD rs770213331
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.03
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available