N85K (p.Asn85Lys) variant of UMOD (Uromodulin)
N85K (p.Asn85Lys) 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 0.95 / 1. The record also includes structural context.
N85K (p.Asn85Lys) variant details
- p.Asn85Lys
- rs750535100
- ClinGen CA394986976
- ClinVar RCV000681908
- ExAC rs750535100
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available