P79L (p.Pro79Leu) variant of CLN3 (Battenin)
P79L (p.Pro79Leu) 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 0.36 / 1. The record also includes published literature.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- rs1596564333
- ClinGen CA395346327
- ClinVar RCV000793950
- Ensembl rs1596564333
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.74
- PolyPhen-2 0.91
- SIFT 0.07
- MutPred 0.49
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)