A797P (p.Ala797Pro) variant of OCRL (Q01968)
A797P (p.Ala797Pro) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
A797P (p.Ala797Pro) variant details
- p.Ala797Pro
- rs935956958
- ClinGen CA414631096
- ClinVar RCV000687544
- UniProt VAR 010189
- Pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- AlphaMissense 0.30
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.56
- SIFT 0.73
- EVE 0.13
- ClinVar: Pathogenic (Lowe syndrome)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Structural context available
- Cited in: Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. (PMID 20133602)
- Cited in: From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical… (PMID 21031565)