H34Y (p.His34Tyr) variant of CLN3 (Battenin)
H34Y (p.His34Tyr) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
H34Y (p.His34Tyr) variant details
- p.His34Tyr
- TOPMed rs1245582061
- gnomAD rs1245582061
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 7.47
- Most common in the East Asian population (allele frequency 0.00019)