A50D (p.Ala50Asp) variant of BCL2L1 (Bcl-2-like protein 1)
A50D (p.Ala50Asp) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A50D (p.Ala50Asp) variant details
- p.Ala50Asp
- gnomAD 20-31722070-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available