T80A (p.Thr80Ala) variant of CLN3 (Battenin)
T80A (p.Thr80Ala) 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 0.07 / 1. The record also includes population frequency data.
T80A (p.Thr80Ala) variant details
- p.Thr80Ala
- 1000Genomes rs150348015
- ESP rs150348015
- ExAC rs150348015
- TOPMed rs150348015
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.0696
- CADD 1.58
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)