N76S (p.Asn76Ser) variant of UMOD (Uromodulin)
N76S (p.Asn76Ser) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N76S (p.Asn76Ser) variant details
- p.Asn76Ser
- TOPMed rs1336248874
- gnomAD rs1336248874
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.38
- CADD 18.70
- PolyPhen-2 0.67
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available