K54* (p.Lys54Ter) variant of MMUT (P22033)
K54* (p.Lys54Ter) in MMUT (P22033) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K54* (p.Lys54Ter) variant details
- p.Lys54Ter
- rs1554161054
- ClinGen CA364405547
- ClinVar RCV000551650
- ClinVar RCV001376569
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)