R88H (p.Arg88His) variant of MBP (Myelin basic protein)
R88H (p.Arg88His) 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 0.53 / 1. The record also includes population frequency data and structural context.
R88H (p.Arg88His) variant details
- p.Arg88His
- rs141290653
- cosmic curated COSV62828
- ESP rs141290653
- ExAC rs141290653
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.34
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available