R37W (p.Arg37Trp) variant of MBP (Myelin basic protein)
R37W (p.Arg37Trp) 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 0.31 / 1. The record also includes population frequency data and structural context.
R37W (p.Arg37Trp) variant details
- p.Arg37Trp
- rs1242231426
- NCI-TCGA Cosmic COSV6355
- cosmic curated COSV63559
- TOPMed rs1242231426
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.14
- CADD 21.40
- PolyPhen-2 0.25
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available