V80M (p.Val80Met) variant of CRBN (Protein cereblon)
V80M (p.Val80Met) in CRBN (Protein cereblon) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
V80M (p.Val80Met) variant details
- p.Val80Met
- TOPMed rs1202909740
- gnomAD rs1202909740
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.09
- CADD 20.50
- PolyPhen-2 0.33
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available