Y39Y (p.Tyr39Tyr) variant of HOGA1 (Q86XE5)
Y39Y (p.Tyr39Tyr) in HOGA1 (Q86XE5) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Y39Y (p.Tyr39Tyr) variant details
- p.Tyr39Tyr
- rs746419489
- gnomAD 10-97584820-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 8.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. (PMID 22391140)