Q10L (p.Gln10Leu) variant of OCRL (Q01968)
Q10L (p.Gln10Leu) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Nephrolithiasis/nephrocalcinosis; Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q10L (p.Gln10Leu) variant details
- p.Gln10Leu
- rs924766896
- ClinGen CA335075262
- ClinVar RCV003622017
- ClinVar RCV006368540
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.34
- MetaLR 0.55
- MetaSVM -0.21
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.54
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Lowe syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)