D96G (p.Asp96Gly) variant of BCL11B (B-cell lymphoma/leukemia 11B)
D96G (p.Asp96Gly) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D96G (p.Asp96Gly) variant details
- p.Asp96Gly
- ESP rs148947748
- ExAC rs148947748
- TOPMed rs148947748
- gnomAD rs148947748
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available