P72L (p.Pro72Leu) variant of UMOD (Uromodulin)
P72L (p.Pro72Leu) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- gnomAD rs1341548443
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.21
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available