H84Y (p.His84Tyr) variant of CLN3 (Battenin)
H84Y (p.His84Tyr) in CLN3 (Battenin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
H84Y (p.His84Tyr) variant details
- p.His84Tyr
- 1000Genomes rs201329358
- ExAC rs201329358
- TOPMed rs201329358
- gnomAD rs201329358
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- CADD 9.74
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)