R14G (p.Arg14Gly) variant of BCL2L11 (Bcl-2-like protein 11)
R14G (p.Arg14Gly) 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 0.25 / 1. The record also includes population frequency data and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- rs1041372390
- ClinGen CA54112328
- ClinVar RCV004185318
- TOPMed rs1041372390
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.22
- MetaLR 0.17
- MetaSVM -0.68
- CADD 15.80
- PolyPhen-2 0.23
- SIFT 0.25
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0021)
- Structural context available