S87L (p.Ser87Leu) variant of CLN3 (Battenin)
S87L (p.Ser87Leu) 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 0.69 / 1. The record also includes published literature and structural context.
S87L (p.Ser87Leu) variant details
- p.Ser87Leu
- rs2141717001
- ClinGen CA395346264
- ClinVar RCV001983317
- Ensembl rs2141717001
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.15
- MetaLR 0.90
- MetaSVM 0.95
- PolyPhen-2 0.40
- SIFT 0.09
- MutPred 0.47
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)