E112* (p.Glu112Ter) variant of MMAB (Q96EY8)
E112* (p.Glu112Ter) in MMAB (Q96EY8) 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 0.47 / 1. The record also includes published literature and structural context.
E112* (p.Glu112Ter) variant details
- p.Glu112Ter
- rs376219481
- ClinGen CA386638601
- ClinVar RCV003501721
- ESP rs376219481
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.07
- MetaLR 0.71
- MetaSVM -0.19
- PolyPhen-2 0.02
- SIFT 0.21
- EVE 0.14
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)