L46V (p.Leu46Val) variant of CLN3 (Battenin)
L46V (p.Leu46Val) 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 0.73 / 1. The record also includes published literature and structural context.
L46V (p.Leu46Val) variant details
- p.Leu46Val
- rs1360860411
- ClinGen CA395346566
- ClinVar RCV003026801
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- AlphaMissense 0.32
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.37
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)