S49V (p.Ser49Val) variant of BCL2L1 (Bcl-2-like protein 1)
S49V (p.Ser49Val) in BCL2L1 (Bcl-2-like protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S49V (p.Ser49Val) variant details
- p.Ser49Val
- rs1308464449
- gnomAD 20-31722074-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 27.20
- Population evidence available
- Structural context available
- Literature evidence available