M1L (p.Met1Leu) variant of CLN3 (Battenin)
M1L (p.Met1Leu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Juvenile neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs386833708
- ClinGen CA263637
- ClinVar RCV000049669
- ClinVar RCV002513684
- Uncertain significance
- Juvenile neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- MetaLR 0.90
- MetaSVM 0.99
- PolyPhen-2 0.73
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (Juvenile neuronal ceroid lipofuscinosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)