P474S (p.Pro474Ser) variant of TGM1 (P22735)
P474S (p.Pro474Ser) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P474S (p.Pro474Ser) variant details
- p.Pro474Ser
- rs1202280089
- TOPMed rs1202280089
- gnomAD rs1202280089
- ClinGen CA389256809
- Pathogenic/Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.901
- REVEL 0.96
- MetaLR 0.94
- MetaSVM 1.08
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)