D196N (p.Asp196Asn) variant of UMOD (Uromodulin)
D196N (p.Asp196Asn) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D196N (p.Asp196Asn) variant details
- p.Asp196Asn
- rs1965729129
- ClinGen CA394985384
- ClinVar RCV002251408
- Ensembl rs1965729129
- Likely pathogenic
- Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.63
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and… (PMID 19465746)
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)