C4R (p.Cys4Arg) variant of MMAB (Q96EY8)
C4R (p.Cys4Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C4R (p.Cys4Arg) variant details
- p.Cys4Arg
- rs146668962
- ClinGen CA6779089
- ClinVar RCV000883287
- ClinVar RCV003910420
- Conflicting interpretations
- Methylmalonic aciduria, cblB type
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Methylmalonic aciduria, cblB type)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.022)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)