L17* (p.Leu17Ter) variant of MMAA (Q8IVH4)
L17* (p.Leu17Ter) in MMAA (Q8IVH4) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L17* (p.Leu17Ter) variant details
- p.Leu17Ter
- rs775224246
- ClinGen CA358350968
- ClinVar RCV003470136
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 32.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)