H436R (p.His436Arg) variant of TGM1 (P22735)
H436R (p.His436Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H436R (p.His436Arg) variant details
- p.His436Arg
- rs1381998109
- gnomAD rs1381998109
- ClinGen CA389260298
- ClinVar RCV000782374
- Pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- REVEL 0.99
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)