R15C (p.Arg15Cys) variant of MMAB (Q96EY8)
R15C (p.Arg15Cys) in MMAB (Q96EY8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Methylmalonic aciduria, cblB type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R15C (p.Arg15Cys) variant details
- p.Arg15Cys
- rs921232728
- ClinGen CA243451913
- ClinVar RCV000756342
- ClinVar RCV001869021
- Uncertain significance
- not provided; Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.42
- ESM-1b 0.20
- AlphaMissense 0.20
- CADD 25.80
- PolyPhen-2 0.89
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Methylmalonic aciduria, cblB type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)