Q38* (p.Gln38Ter) variant of MMAB (Q96EY8)
Q38* (p.Gln38Ter) in MMAB (Q96EY8) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q38* (p.Gln38Ter) variant details
- p.Gln38Ter
- rs2548614137
- ClinGen CA386641198
- ClinVar RCV003461862
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 37.00
- 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)