T108A (p.Thr108Ala) variant of CLN3 (Battenin)
T108A (p.Thr108Ala) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
T108A (p.Thr108Ala) variant details
- p.Thr108Ala
- rs1302804526
- ClinGen CA395346110
- ClinVar RCV001948408
- TOPMed rs1302804526
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.20
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)