E26G (p.Glu26Gly) variant of TGM1 (P22735)
E26G (p.Glu26Gly) 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 0.39 / 1. The record also includes population frequency data and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- TOPMed rs2040820316
- gnomAD rs2040820316
- Uncertain significance
- Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.34
- CADD 23.20
- ClinVar: Uncertain significance (Autosomal recessive congenital ichthyosis 1)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available