R22* (p.Arg22Ter) variant of MMAA (Q8IVH4)
R22* (p.Arg22Ter) in MMAA (Q8IVH4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. 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.
R22* (p.Arg22Ter) variant details
- p.Arg22Ter
- rs765799472
- ClinGen CA347868
- NCI-TCGA Cosmic COSV5558
- cosmic curated COSV55580
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)