A27D (p.Ala27Asp) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A27D (p.Ala27Asp) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- Ensembl rs2139954475
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.13
- CADD 23.70
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available