S272P (p.Ser272Pro) variant of TGM1 (P22735)
S272P (p.Ser272Pro) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S272P (p.Ser272Pro) variant details
- p.Ser272Pro
- rs764040146
- ExAC rs764040146
- gnomAD rs764040146
- ClinGen CA7131276
- Likely pathogenic
- Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.64
- CADD 20.90
- PolyPhen-2 0.28
- SIFT 0.06
- ClinVar: Likely pathogenic (Lamellar ichthyosis; Autosomal recessive congenital ichthyosis 1)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23… (PMID 19241467)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)