R69H (p.Arg69His) variant of MBP (Myelin basic protein)
R69H (p.Arg69His) 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 0.26 / 1. The record also includes population frequency data and structural context.
R69H (p.Arg69His) variant details
- p.Arg69His
- rs529411261
- NCI-TCGA Cosmic COSV6283
- cosmic curated COSV62830
- 1000Genomes rs529411261
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.05
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available