R186Q (p.Arg186Gln) variant of MMAB (Q96EY8)
R186Q (p.Arg186Gln) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Methylmalonic acidemia; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R186Q (p.Arg186Gln) variant details
- p.Arg186Gln
- rs773059864
- ClinGen CA6778832
- ClinVar RCV000667435
- ClinVar RCV004017714
- Pathogenic/Likely pathogenic
- Methylmalonic acidemia; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.62
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Methylmalonic acidemia; Methylmalonic aciduria, cblB type)
- EBI: Pathogenic (in MACB)
- UniProt: Pathogenic (in MACB)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)