R6C (p.Arg6Cys) variant of TGM1 (P22735)
R6C (p.Arg6Cys) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive congenital ichthyosis 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R6C (p.Arg6Cys) variant details
- p.Arg6Cys
- rs372412279
- ESP rs372412279
- TOPMed rs372412279
- gnomAD rs372412279
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.45
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.07
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1; Inborn genetic dise)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)