C119R (p.Cys119Arg) variant of MMAB (Q96EY8)
C119R (p.Cys119Arg) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
C119R (p.Cys119Arg) variant details
- p.Cys119Arg
- TOPMed rs1884224138
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 23.50
- PolyPhen-2 0.20
- SIFT 0.03
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available