S85* (p.Ser85Ter) variant of TGM1 (P22735)
S85* (p.Ser85Ter) in TGM1 (P22735) 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 0.41 / 1. The record also includes published literature and structural context.
S85* (p.Ser85Ter) variant details
- p.Ser85Ter
- rs1441391864
- ClinGen CA389279946
- ClinVar RCV003474092
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.406
- AlphaMissense 0.10
- MetaLR 0.29
- MetaSVM -0.85
- PolyPhen-2 0.02
- SIFT 0.66
- MutPred 0.20
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)