I55L (p.Ile55Leu) variant of OCRL (Q01968)
I55L (p.Ile55Leu) 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 0.28 / 1. The record also includes population frequency data and structural context.
I55L (p.Ile55Leu) variant details
- p.Ile55Leu
- TOPMed rs989911294
- gnomAD rs989911294
- Uncertain significance
- Lowe syndrome; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.22
- MetaLR 0.61
- MetaSVM -0.22
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Lowe syndrome; Dent disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available