Y30Y (p.Tyr30Tyr) variant of COL4A5 (Collagen alpha-5(IV) chain)
Y30Y (p.Tyr30Tyr) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Y30Y (p.Tyr30Tyr) variant details
- p.Tyr30Tyr
- rs104886047
- gnomAD X-108539754-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 7.79
- Most common in the Latino/Admixed American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. (PMID 10862091)