S102L (p.Ser102Leu) variant of BCL11B (B-cell lymphoma/leukemia 11B)
S102L (p.Ser102Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S102L (p.Ser102Leu) variant details
- p.Ser102Leu
- rs887339908
- ClinGen CA266117330
- ClinVar RCV002637626
- TOPMed rs887339908
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.05
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available