S33P (p.Ser33Pro) variant of UMOD (Uromodulin)
S33P (p.Ser33Pro) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S33P (p.Ser33Pro) variant details
- p.Ser33Pro
- rs774567659
- ClinGen CA7939494
- ClinVar RCV003819667
- ClinVar RCV005013214
- Uncertain significance
- not provided; Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.51
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)