V72F (p.Val72Phe) variant of BCL11B (B-cell lymphoma/leukemia 11B)
V72F (p.Val72Phe) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V72F (p.Val72Phe) variant details
- p.Val72Phe
- gnomAD rs1347438592
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.12
- CADD 23.50
- PolyPhen-2 0.36
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available