I55V (p.Ile55Val) variant of OCRL (Q01968)
I55V (p.Ile55Val) 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; Nephrolithiasis/nephrocalcinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
I55V (p.Ile55Val) variant details
- p.Ile55Val
- rs989911294
- ClinGen CA335077985
- ClinVar RCV002914907
- TOPMed rs989911294
- Uncertain significance
- Lowe syndrome; Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.16
- MetaLR 0.55
- MetaSVM -0.38
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Lowe syndrome; Nephrolithiasis/nephrocalcinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)