P86R (p.Pro86Arg) variant of MMUT (P22033)
P86R (p.Pro86Arg) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
P86R (p.Pro86Arg) variant details
- p.Pro86Arg
- rs769348060
- ClinGen CA138801030
- ClinVar RCV003665506
- ExAC rs769348060
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- MutPred 0.93
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Structural context available