R88C (p.Arg88Cys) variant of MBP (Myelin basic protein)
R88C (p.Arg88Cys) in MBP (Myelin basic protein) 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 0.61 / 1. The record also includes population frequency data and structural context.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- rs1206368278
- NCI-TCGA Cosmic COSV6282
- TOPMed rs1206368278
- gnomAD rs1206368278
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available