R190C (p.Arg190Cys) variant of MMAB (Q96EY8)
R190C (p.Arg190Cys) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R190C (p.Arg190Cys) variant details
- p.Arg190Cys
- rs398124434
- ClinGen CA223862
- NCI-TCGA Cosmic COSV5716
- cosmic curated COSV57169
- Pathogenic/Likely pathogenic
- not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- REVEL 0.98
- ESM-1b 1.00
- AlphaMissense 0.71
- MetaLR 0.98
- MetaSVM 1.02
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Methylmalonic aciduria, cblB type)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)