T541P (p.Thr541Pro) variant of TGM1 (P22735)
T541P (p.Thr541Pro) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lamellar ichthyosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
T541P (p.Thr541Pro) variant details
- p.Thr541Pro
- rs587779765
- Ensembl rs587779765
- ClinGen CA151351
- ClinVar RCV000114933
- Pathogenic
- Lamellar ichthyosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.86
- MetaLR 0.77
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.78
- ClinVar: Pathogenic (Lamellar ichthyosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)