C35Y (p.Cys35Tyr) variant of UMOD (Uromodulin)
C35Y (p.Cys35Tyr) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
C35Y (p.Cys35Tyr) variant details
- p.Cys35Tyr
- rs1555487726
- ClinGen CA394965717
- ClinVar RCV000522913
- Ensembl rs1555487726
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.70
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available