D25G (p.Asp25Gly) variant of UMOD (Uromodulin)
D25G (p.Asp25Gly) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
D25G (p.Asp25Gly) variant details
- p.Asp25Gly
- rs148980017
- ClinGen CA7939535
- ClinVar RCV003579726
- ESP rs148980017
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.29
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00043)
- Structural context available