H36Q (p.His36Gln) variant of UMOD (Uromodulin)
H36Q (p.His36Gln) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
H36Q (p.His36Gln) variant details
- p.His36Gln
- gnomAD rs780500597
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.61
- CADD 25.80
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available