A59T (p.Ala59Thr) variant of CLN3 (Battenin)
A59T (p.Ala59Thr) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, 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 0.73 / 1. The record also includes population frequency data and published literature.
A59T (p.Ala59Thr) variant details
- p.Ala59Thr
- rs765893479
- ClinGen CA7981034
- ClinVar RCV001222663
- ClinVar RCV001810499
- Pathogenic/Likely pathogenic
- Retinal dystrophy; Neuronal ceroid lipofuscinosis 3; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; Neuronal ceroid lipofuscinosis 3; Inborn gene)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 5e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)