S101A (p.Ser101Ala) variant of BCL11B (B-cell lymphoma/leukemia 11B)
S101A (p.Ser101Ala) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S101A (p.Ser101Ala) variant details
- p.Ser101Ala
- gnomAD rs1383379624
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.03
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.03
- CADD 13.50
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available