T108S (p.Thr108Ser) variant of CLN3 (Battenin)
T108S (p.Thr108Ser) 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 0.59 / 1. The record also includes population frequency data and structural context.
T108S (p.Thr108Ser) variant details
- p.Thr108Ser
- rs1302804526
- TOPMed rs1302804526
- gnomAD rs1302804526
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 22.30
- PolyPhen-2 0.78
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available