T80M (p.Thr80Met) variant of CLN3 (Battenin)
T80M (p.Thr80Met) 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; Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and published literature.
T80M (p.Thr80Met) variant details
- p.Thr80Met
- rs775999656
- ClinGen CA7981008
- cosmic curated COSV61105
- ClinVar RCV000521226
- Uncertain significance
- Neuronal ceroid lipofuscinosis; not provided; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 13.70
- PolyPhen-2 0.60
- SIFT 0.11
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis; not provided; Neuronal ceroid li)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)