D67N (p.Asp67Asn) variant of UMOD (Uromodulin)
D67N (p.Asp67Asn) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D67N (p.Asp67Asn) variant details
- p.Asp67Asn
- gnomAD rs1259657316
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.34
- CADD 19.10
- PolyPhen-2 0.10
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available