P693L (p.Pro693Leu) variant of OCRL (Q01968)
P693L (p.Pro693Leu) 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 0.48 / 1. The record also includes published literature and structural context.
P693L (p.Pro693Leu) variant details
- p.Pro693Leu
- rs1936370877
- ClinGen CA414622450
- ClinVar RCV001200920
- Ensembl rs1936370877
- Pathogenic
- Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- AlphaMissense 0.97
- MetaLR 0.19
- MetaSVM -0.71
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Dent disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)