T19I (p.Thr19Ile) variant of CLN3 (Battenin)
T19I (p.Thr19Ile) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
T19I (p.Thr19Ile) variant details
- p.Thr19Ile
- rs758020045
- ClinGen CA7981087
- cosmic curated COSV60492
- ClinVar RCV002653547
- Uncertain significance
- Neuronal ceroid lipofuscinosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 15.80
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)