G33R (p.Gly33Arg) variant of NCSTN (Nicastrin)
G33R (p.Gly33Arg) in NCSTN (Nicastrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Acne inversa, familial, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
G33R (p.Gly33Arg) variant details
- p.Gly33Arg
- rs2101889658
- ClinGen CA343275176
- ClinVar RCV001535813
- Ensembl rs2101889658
- Pathogenic
- Acne inversa, familial, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.35
- MetaSVM -0.42
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Pathogenic (Acne inversa, familial, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features… (PMID 31421058)