S104C (p.Ser104Cys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
S104C (p.Ser104Cys) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
S104C (p.Ser104Cys) variant details
- p.Ser104Cys
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10059
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.14
- CADD 23.70
- PolyPhen-2 0.26
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available