E54D (p.Glu54Asp) variant of BCL2L2 (Bcl-2-like protein 2)
E54D (p.Glu54Asp) in BCL2L2 (Bcl-2-like protein 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- gnomAD 14-23307929-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.13
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available