G37R (p.Gly37Arg) variant of OCRL (Q01968)
G37R (p.Gly37Arg) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G37R (p.Gly37Arg) variant details
- p.Gly37Arg
- rs767054196
- ClinGen CA10511930
- ClinVar RCV003509622
- ClinVar RCV004028361
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.48
- MetaLR 0.79
- MetaSVM 0.70
- CADD 24.50
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Lowe syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)