Y134H (p.Tyr134His) variant of TGM1 (P22735)
Y134H (p.Tyr134His) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
Y134H (p.Tyr134His) variant details
- p.Tyr134His
- rs1230140208
- ClinGen CA389278223
- ClinVar RCV000782403
- ClinVar RCV005407956
- Pathogenic/Likely pathogenic
- Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- REVEL 0.65
- CADD 23.80
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)