Y24* (p.Tyr24Ter) variant of MMAA (Q8IVH4)
Y24* (p.Tyr24Ter) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- rs1553957883
- ClinGen CA358351092
- ClinVar RCV000509025
- ClinVar RCV001250250
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)