I55T (p.Ile55Thr) variant of OCRL (Q01968)
I55T (p.Ile55Thr) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lowe syndrome; Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I55T (p.Ile55Thr) variant details
- p.Ile55Thr
- rs1278754966
- ClinGen CA414550576
- ClinVar RCV001923435
- ClinVar RCV002491889
- Uncertain significance
- Lowe syndrome; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.25
- MetaLR 0.63
- MetaSVM -0.04
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (Lowe syndrome; Dent disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)