R186P (p.Arg186Pro) variant of MMAB (Q96EY8)
R186P (p.Arg186Pro) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
R186P (p.Arg186Pro) variant details
- p.Arg186Pro
- rs773059864
- ClinGen CA386636903
- ClinVar RCV003815824
- Likely pathogenic
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Likely pathogenic (Methylmalonic aciduria, cblB type)
- EBI: Likely pathogenic (in MACB)
- UniProt: Likely pathogenic (in MACB)
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)