Y479C (p.Tyr479Cys) variant of OCRL (Q01968)
Y479C (p.Tyr479Cys) 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 0.93 / 1. The record also includes published literature and structural context.
Y479C (p.Tyr479Cys) variant details
- p.Tyr479Cys
- rs137853262
- ClinGen CA255587
- ClinVar RCV000011607
- UniProt VAR 022699
- Pathogenic
- Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.92
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic (Dent disease type 2)
- EBI: Pathogenic (in DENT2)
- UniProt: Pathogenic (in DENT2)
- Structural context available
- Cited in: Dent Disease with mutations in OCRL1. (PMID 15627218)
- Cited in: OCRL1 mutations in patients with Dent disease phenotype in Japan. (PMID 17384968)