R9C (p.Arg9Cys) variant of MMAB (Q96EY8)
R9C (p.Arg9Cys) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar 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 0.26 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- ExAC rs745645666
- TOPMed rs745645666
- gnomAD rs745645666
- Uncertain significance
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.24
- ESM-1b 0.57
- AlphaMissense 0.21
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblB type)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available