S42Y (p.Ser42Tyr) variant of TGM1 (P22735)
S42Y (p.Ser42Tyr) in TGM1 (P22735) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Autosomal recessive congenital ichthyosis 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S42Y (p.Ser42Tyr) variant details
- p.Ser42Tyr
- rs41295338
- 1000Genomes rs41295338
- ESP rs41295338
- ExAC rs41295338
- Conflicting interpretations
- not specified; not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.56
- CADD 23.80
- PolyPhen-2 0.60
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Autosomal recessive congenital icht)
- EBI: Pathogenic (in ARCI1)
- UniProt: Pathogenic (in ARCI1)
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.053)
- Structural context available
- Cited in: Mutations of keratinocyte transglutaminase in lamellar ichthyosis. (PMID 7824952)
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)