R136W (p.Arg136Trp) variant of MMAB (Q96EY8)
R136W (p.Arg136Trp) 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 0.63 / 1. The record also includes population frequency data and structural context.
R136W (p.Arg136Trp) variant details
- p.Arg136Trp
- ExAC rs763783083
- TOPMed rs763783083
- gnomAD rs763783083
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available