F12S (p.Phe12Ser) variant of BCL2L1 (Bcl-2-like protein 1)
F12S (p.Phe12Ser) in BCL2L1 (Bcl-2-like protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
F12S (p.Phe12Ser) variant details
- p.Phe12Ser
- rs1452829095
- gnomAD 20-31722182-GAA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.62
- CADD 28.00
- Population evidence available
- Structural context available
- Literature evidence available