R687C (p.Arg687Cys) variant of TGM1 (P22735)
R687C (p.Arg687Cys) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R687C (p.Arg687Cys) variant details
- p.Arg687Cys
- rs147516124
- ClinGen CA7130915
- ClinVar RCV000674083
- ClinVar RCV001703230
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.57
- MetaLR 0.32
- MetaSVM -0.49
- CADD 23.50
- PolyPhen-2 0.08
- SIFT 0.02
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the REMAINING population (allele frequency 3.3e-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)