T80S (p.Thr80Ser) variant of CLN3 (Battenin)
T80S (p.Thr80Ser) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and published literature.
T80S (p.Thr80Ser) variant details
- p.Thr80Ser
- rs150348015
- ClinGen CA7981009
- ClinVar RCV000632734
- ClinVar RCV001721545
- Conflicting interpretations
- Inborn genetic diseases; not provided; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.064
- CADD 0.51
- PolyPhen-2 0.02
- SIFT 0.40
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Neuronal ceroid lipofusci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ESN population (allele frequency 0.015)
- 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)