N8K (p.Asn8Lys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
N8K (p.Asn8Lys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- ExAC rs752301063
- gnomAD rs752301063
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.14
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available