N85S (p.Asn85Ser) variant of UMOD (Uromodulin)
N85S (p.Asn85Ser) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes structural context.
N85S (p.Asn85Ser) variant details
- p.Asn85Ser
- rs1057522004
- ClinGen CA16607268
- ClinVar RCV000431019
- ClinVar RCV004725215
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- AlphaMissense 0.46
- MetaLR 0.97
- MetaSVM 1.14
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.81
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available