I533T (p.Ile533Thr) variant of OCRL (Q01968)
I533T (p.Ile533Thr) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I533T (p.Ile533Thr) variant details
- p.Ile533Thr
- rs2124412922
- ClinGen CA414616586
- ClinVar RCV000022864
- Ensembl rs2124412922
- Pathogenic
- Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.89
- MetaLR 0.90
- MetaSVM 0.98
- CADD 22.70
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Pathogenic (Dent disease type 2)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Novel OCRL mutations in patients with Dent-2 disease. (PMID 27625797)
- Cited in: Dent Disease. (PMID 22876375)