D25N (p.Asp25Asn) variant of UMOD (Uromodulin)
D25N (p.Asp25Asn) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D25N (p.Asp25Asn) variant details
- p.Asp25Asn
- rs772246118
- ClinGen CA7939536
- ClinVar RCV002644162
- ExAC rs772246118
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.17
- CADD 0.73
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available