S772R (p.Ser772Arg) variant of TGM1 (P22735)
S772R (p.Ser772Arg) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
S772R (p.Ser772Arg) variant details
- p.Ser772Arg
- rs757658720
- ClinGen CA389241782
- ClinVar RCV003327974
- ClinVar RCV005608954
- Likely pathogenic
- Autosomal recessive congenital ichthyosis 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.73
- MetaLR 0.63
- MetaSVM 0.25
- CADD 24.60
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive congenital ichthyosis 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)