S104F (p.Ser104Phe) variant of BCL11B (B-cell lymphoma/leukemia 11B)
S104F (p.Ser104Phe) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S104F (p.Ser104Phe) variant details
- p.Ser104Phe
- ExAC rs776593886
- gnomAD rs776593886
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.14
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available