Y110* (p.Tyr110Ter) variant of MMUT (P22033)
Y110* (p.Tyr110Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MAMM. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Y110* (p.Tyr110Ter) variant details
- p.Tyr110Ter
- rs879253826
- ClinGen CA10575885
- ClinVar RCV000236434
- ClinVar RCV001376599
- Pathogenic
- in MAMM
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 36.00
- EBI: Pathogenic (in MAMM)
- UniProt: Pathogenic (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)