G83C (p.Gly83Cys) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G83C (p.Gly83Cys) 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 0.25 / 1. The record also includes structural context.
G83C (p.Gly83Cys) variant details
- p.Gly83Cys
- rs115163662
- ClinGen CA390939243
- ClinVar RCV003057623
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.16
- PolyPhen-2 0.23
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available