A142T (p.Ala142Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
A142T (p.Ala142Thr) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A142T (p.Ala142Thr) variant details
- p.Ala142Thr
- Ensembl rs2139953109
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.04
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available