A2E (p.Ala2Glu) variant of BCL2L11 (Bcl-2-like protein 11)
A2E (p.Ala2Glu) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 2-111123750-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.35
- MetaLR 0.26
- MetaSVM -0.51
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available