I56V (p.Ile56Val) variant of OCRL (Q01968)
I56V (p.Ile56Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- rs1239599814
- ClinGen CA414550581
- ClinVar RCV004200291
- TOPMed rs1239599814
- Uncertain significance
- Nephrolithiasis/nephrocalcinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.24
- MetaLR 0.66
- MetaSVM 0.01
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Nephrolithiasis/nephrocalcinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available