R7G (p.Arg7Gly) variant of RB1 (P06400)
R7G (p.Arg7Gly) in RB1 (P06400) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- TOPMed rs1952051704
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.41
- MetaLR 0.79
- MetaSVM 0.18
- CADD 23.50
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available