G47R (p.Gly47Arg) variant of MBP (Myelin basic protein)
G47R (p.Gly47Arg) 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 0.44 / 1. The record also includes population frequency data and structural context.
G47R (p.Gly47Arg) variant details
- p.Gly47Arg
- rs535536627
- NCI-TCGA Cosmic COSV1005
- NCI-TCGA Cosmic COSV6355
- cosmic curated COSV63556
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.22
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available