S69T (p.Ser69Thr) variant of CLN3 (Battenin)
S69T (p.Ser69Thr) in CLN3 (Battenin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
S69T (p.Ser69Thr) variant details
- p.Ser69Thr
- ExAC rs748458737
- TOPMed rs748458737
- gnomAD rs748458737
- Missense
- Variant Prioritization Score for Impact Estimate 0.0944
- CADD 1.94
- Most common in the East Asian population (allele frequency 0.00019)