N80S (p.Asn80Ser) variant of UMOD (Uromodulin)
N80S (p.Asn80Ser) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
N80S (p.Asn80Ser) variant details
- p.Asn80Ser
- TOPMed rs1288986917
- gnomAD rs1288986917
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.18
- CADD 4.14
- PolyPhen-2 0.14
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available