R190G (p.Arg190Gly) variant of MMAB (Q96EY8)
R190G (p.Arg190Gly) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Methylmalonic acidemia; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
R190G (p.Arg190Gly) variant details
- p.Arg190Gly
- rs398124434
- ClinGen CA10603291
- ClinVar RCV000324116
- ExAC rs398124434
- Pathogenic
- Methylmalonic acidemia; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.98
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available