R315P (p.Arg315Pro) variant of TGM1 (P22735)
R315P (p.Arg315Pro) 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R315P (p.Arg315Pro) variant details
- p.Arg315Pro
- rs143473912
- ClinGen CA389268057
- ClinVar RCV002867865
- ClinVar RCV005928670
- Likely pathogenic
- not provided; Autosomal recessive congenital ichthyosis 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.82
- CADD 27.80
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Likely pathogenic (not provided; Autosomal recessive congenital ichthyosis 1)
- EBI: Likely pathogenic (in ARCI1)
- UniProt: Likely pathogenic (in ARCI1)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Autosomal Recessive Congenital Ichthyosis. (PMID 20301593)