A22P (p.Ala22Pro) variant of UMOD (Uromodulin)
A22P (p.Ala22Pro) in UMOD (Uromodulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- ExAC rs775696672
- gnomAD rs775696672
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.34
- CADD 16.30
- PolyPhen-2 0.36
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available