N140T (p.Asn140Thr) variant of BCL11B (B-cell lymphoma/leukemia 11B)
N140T (p.Asn140Thr) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N140T (p.Asn140Thr) variant details
- p.Asn140Thr
- ESP rs368883479
- ExAC rs368883479
- TOPMed rs368883479
- gnomAD rs368883479
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.04
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available