A5T (p.Ala5Thr) variant of CLN3 (Battenin)
A5T (p.Ala5Thr) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; Neuronal ceroid lipofuscinosis 3; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- gnomAD rs1213007861
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Neuronal ceroid lipofuscinosis 3; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 19.60
- PolyPhen-2 0.33
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Neuronal ceroid lipofuscinosis 3; Inborn gene)
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)