R25P (p.Arg25Pro) variant of OCRL (Q01968)
R25P (p.Arg25Pro) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R25P (p.Arg25Pro) variant details
- p.Arg25Pro
- rs368472232
- ClinGen CA10511922
- ClinVar RCV003621769
- ClinVar RCV005387212
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis; Lowe syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.56
- MetaLR 0.67
- MetaSVM 0.10
- CADD 23.50
- PolyPhen-2 0.04
- SIFT 0.00
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis; Lowe syndrome; not specified)
- 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)