L102V (p.Leu102Val) variant of CLN3 (Battenin)
L102V (p.Leu102Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
L102V (p.Leu102Val) variant details
- p.Leu102Val
- rs1167562278
- ClinGen CA395346145
- ClinVar RCV001248304
- TOPMed rs1167562278
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- AlphaMissense 0.42
- MetaLR 0.94
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)