T529I (p.Thr529Ile) variant of TGM1 (P22735)
T529I (p.Thr529Ile) 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 0.84 / 1. The record also includes population frequency data and structural context.
T529I (p.Thr529Ile) variant details
- p.Thr529Ile
- rs761372792
- ExAC rs761372792
- TOPMed rs761372792
- gnomAD rs761372792
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- AlphaMissense 0.99
- MetaLR 0.81
- MetaSVM 0.84
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available