G83S (p.Gly83Ser) variant of BCL11B (B-cell lymphoma/leukemia 11B)
G83S (p.Gly83Ser) in BCL11B (B-cell lymphoma/leukemia 11B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
G83S (p.Gly83Ser) variant details
- p.Gly83Ser
- rs115163662
- ClinGen CA7339930
- cosmic curated COSV61738
- ClinVar RCV002016696
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.07
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.16
- CADD 13.00
- PolyPhen-2 0.23
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available