R3* (p.Arg3Ter) variant of MMUT (P22033)
R3* (p.Arg3Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R3* (p.Arg3Ter) variant details
- p.Arg3Ter
- rs750583669
- ClinGen CA3847195
- ClinVar RCV001257406
- ExAC rs750583669
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)