G53D (p.Gly53Asp) variant of BCL2L1 (Bcl-2-like protein 1)
G53D (p.Gly53Asp) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- ExAC rs758032919
- TOPMed rs758032919
- gnomAD rs758032919
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.23
- CADD 24.20
- PolyPhen-2 0.42
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available