R389C (p.Arg389Cys) variant of TGM1 (P22735)
R389C (p.Arg389Cys) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data and structural context.
R389C (p.Arg389Cys) variant details
- p.Arg389Cys
- rs757905282
- ExAC rs757905282
- TOPMed rs757905282
- gnomAD rs757905282
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Likely pathogenic (in ARCI1)
- UniProt: Likely pathogenic (in ARCI1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available