N76D (p.Asn76Asp) variant of UMOD (Uromodulin)
N76D (p.Asn76Asp) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N76D (p.Asn76Asp) variant details
- p.Asn76Asp
- ExAC rs766532087
- gnomAD rs766532087
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.34
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available