C50Y (p.Cys50Tyr) variant of TGM1 (P22735)
C50Y (p.Cys50Tyr) in TGM1 (P22735) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
C50Y (p.Cys50Tyr) variant details
- p.Cys50Tyr
- TOPMed rs2040819294
- gnomAD rs2040819294
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.64
- CADD 24.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available