C23R (p.Cys23Arg) variant of MMAA (Q8IVH4)
C23R (p.Cys23Arg) in MMAA (Q8IVH4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Methylmalonic aciduria, cblA type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- rs889048711
- ClinGen CA107719956
- ClinVar RCV001278248
- TOPMed rs889048711
- Uncertain significance
- Methylmalonic aciduria, cblA type
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Methylmalonic aciduria, cblA type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)