I274T (p.Ile274Thr) variant of OCRL (Q01968)
I274T (p.Ile274Thr) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lowe syndrome; Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
I274T (p.Ile274Thr) variant details
- p.Ile274Thr
- rs137853829
- ClinGen CA266166
- ClinVar RCV000059605
- ClinVar RCV005042183
- Likely pathogenic
- Lowe syndrome; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- AlphaMissense 0.51
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.57
- ClinVar: Likely pathogenic (Lowe syndrome; Dent disease type 2)
- EBI: Pathogenic (in OCRL)
- UniProt: Pathogenic (in OCRL)
- Structural context available
- Cited in: From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical… (PMID 21031565)
- Cited in: Dent Disease. (PMID 22876375)