R190H (p.Arg190His) variant of MMAB (Q96EY8)
R190H (p.Arg190His) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Methylmalonic acidemia; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R190H (p.Arg190His) variant details
- p.Arg190His
- rs756414548
- ClinGen CA312716
- NCI-TCGA Cosmic COSV9990
- cosmic curated COSV99904
- Pathogenic
- not provided; Methylmalonic acidemia; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.02
- CADD 27.50
- ClinVar: Pathogenic (not provided; Methylmalonic acidemia; Methylmalonic aciduria, cb)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)