V100L (p.Val100Leu) variant of CLN3 (Battenin)
V100L (p.Val100Leu) 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 0.72 / 1. The record also includes population frequency data and published literature.
V100L (p.Val100Leu) variant details
- p.Val100Leu
- rs1478662819
- ClinGen CA395346156
- ClinVar RCV000813000
- ClinVar RCV005614450
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 24.70
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)