G50R (p.Gly50Arg) variant of BCL2L11 (Bcl-2-like protein 11)
G50R (p.Gly50Arg) in BCL2L11 (Bcl-2-like protein 11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs772949984
- ClinGen CA1829293
- cosmic curated COSV10735
- ClinVar RCV004205487
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.12
- CADD 19.80
- PolyPhen-2 0.95
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00062)
- Structural context available