Q37* (p.Gln37Ter) variant of MUTYH (Adenine DNA glycosylase)
Q37* (p.Gln37Ter) in MUTYH (Adenine DNA glycosylase) 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 0.44 / 1. The record also includes structural context.
Q37* (p.Gln37Ter) variant details
- p.Gln37Ter
- rs1270853129
- ClinGen CA340137105
- ClinVar RCV003164712
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.437
- AlphaMissense 0.06
- MetaLR 0.48
- MetaSVM -0.53
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available