R69C (p.Arg69Cys) variant of MBP (Myelin basic protein)
R69C (p.Arg69Cys) 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 0.19 / 1. The record also includes population frequency data and structural context.
R69C (p.Arg69Cys) variant details
- p.Arg69Cys
- rs1403050775
- NCI-TCGA Cosmic COSV6282
- cosmic curated COSV62829
- TOPMed rs1403050775
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.15
- CADD 23.70
- PolyPhen-2 0.33
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available