G49R (p.Gly49Arg) variant of BCL2L11 (Bcl-2-like protein 11)
G49R (p.Gly49Arg) in BCL2L11 (Bcl-2-like protein 11) 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 0.19 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- rs1431222585
- NCI-TCGA Cosmic COSV5802
- NCI-TCGA Cosmic COSV5803
- cosmic curated COSV58032
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.96
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DAI population (allele frequency 0.056)
- Structural context available