L55V (p.Leu55Val) variant of BCL11B (B-cell lymphoma/leukemia 11B)
L55V (p.Leu55Val) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L55V (p.Leu55Val) variant details
- p.Leu55Val
- TOPMed rs1200092401
- gnomAD rs1200092401
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.23
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available