T491M (p.Thr491Met) variant of TGM1 (P22735)
T491M (p.Thr491Met) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T491M (p.Thr491Met) variant details
- p.Thr491Met
- rs1249489400
- ClinGen CA389255859
- cosmic curated COSV52865
- ClinVar RCV003474090
- Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.63
- MetaLR 0.87
- MetaSVM 0.90
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)