P352A (p.Pro352Ala) variant of TGM1 (P22735)
P352A (p.Pro352Ala) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive congenital ichthyosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P352A (p.Pro352Ala) variant details
- p.Pro352Ala
- rs1594571148
- Ensembl rs1594571148
- ClinGen CA389264904
- ClinVar RCV000856581
- Pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.99
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.87
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)