R31C (p.Arg31Cys) variant of MMAB (Q96EY8)
R31C (p.Arg31Cys) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Methylmalonic aciduria, cblB type; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R31C (p.Arg31Cys) variant details
- p.Arg31Cys
- rs142447736
- ClinGen CA6779064
- ClinVar RCV001456833
- ClinVar RCV006266796
- Conflicting interpretations
- Methylmalonic aciduria, cblB type; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.46
- ESM-1b 0.19
- AlphaMissense 0.13
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic aciduria, cblB type; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00017)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)