P72A (p.Pro72Ala) variant of UMOD (Uromodulin)
P72A (p.Pro72Ala) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P72A (p.Pro72Ala) variant details
- p.Pro72Ala
- Ensembl rs959260806
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.21
- CADD 11.20
- PolyPhen-2 0.33
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available