T31I (p.Thr31Ile) variant of OCRL (Q01968)
T31I (p.Thr31Ile) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dent disease type 2; Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- rs762676076
- ClinGen CA10511926
- ClinVar RCV001936320
- ClinVar RCV002491960
- Uncertain significance
- Dent disease type 2; Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.23
- MetaLR 0.56
- MetaSVM 0.01
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Dent disease type 2; Lowe syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)