S43L (p.Ser43Leu) variant of BCL2L1 (Bcl-2-like protein 1)
S43L (p.Ser43Leu) in BCL2L1 (Bcl-2-like protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S43L (p.Ser43Leu) variant details
- p.Ser43Leu
- ESP rs145910874
- ExAC rs145910874
- TOPMed rs145910874
- gnomAD rs145910874
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 0.00024)
- Structural context available