Y544C (p.Tyr544Cys) variant of TGM1 (P22735)
Y544C (p.Tyr544Cys) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
Y544C (p.Tyr544Cys) variant details
- p.Tyr544Cys
- rs1044429462
- ClinGen CA257893154
- ClinVar RCV000664924
- ClinVar RCV003558483
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 0.98
- MetaLR 0.95
- MetaSVM 1.10
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)