E737K (p.Glu737Lys) variant of OCRL (Q01968)
E737K (p.Glu737Lys) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Dent disease type 2. The record also includes published literature and structural context.
E737K (p.Glu737Lys) variant details
- p.Glu737Lys
- rs2521943150
- ClinGen CA414627778
- ClinVar RCV002790044
- NCI-TCGA Cosmic COSV6398
- Likely pathogenic
- Dent disease type 2
- Missense
- ClinVar: Likely pathogenic (Dent disease type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)