S43W (p.Ser43Trp) variant of BCL2L1 (Bcl-2-like protein 1)
S43W (p.Ser43Trp) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S43W (p.Ser43Trp) variant details
- p.Ser43Trp
- ESP rs145910874
- ExAC rs145910874
- TOPMed rs145910874
- gnomAD rs145910874
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.11
- CADD 27.30
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available