A2V (p.Ala2Val) variant of BCL2L11 (Bcl-2-like protein 11)
A2V (p.Ala2Val) in BCL2L11 (Bcl-2-like protein 11) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 2-111123750-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.49
- MetaLR 0.26
- MetaSVM -0.52
- CADD 28.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available