L66P (p.Leu66Pro) variant of UMOD (Uromodulin)
L66P (p.Leu66Pro) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial juvenile hyperuricemic nephropathy type 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
L66P (p.Leu66Pro) variant details
- p.Leu66Pro
- rs1567311288
- ClinGen CA394987488
- ClinVar RCV000681880
- ClinVar RCV002251377
- Conflicting interpretations
- Familial juvenile hyperuricemic nephropathy type 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.69
- MetaLR 0.72
- MetaSVM 0.20
- PolyPhen-2 0.91
- SIFT 0.23
- MutPred 0.76
- ClinVar: Conflicting classifications of pathogenicity (Familial juvenile hyperuricemic nephropathy type 1; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)