G73R (p.Gly73Arg) variant of UMOD (Uromodulin)
G73R (p.Gly73Arg) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G73R (p.Gly73Arg) variant details
- p.Gly73Arg
- gnomAD rs1394304982
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.25
- CADD 11.00
- PolyPhen-2 0.05
- SIFT 0.55
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available