S161L (p.Ser161Leu) variant of CLN3 (Battenin)
S161L (p.Ser161Leu) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
S161L (p.Ser161Leu) variant details
- p.Ser161Leu
- rs386833724
- ClinGen CA279784669
- ClinVar RCV001908778
- Ensembl rs386833724
- Pathogenic
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Neuronal ceroid lipofuscinosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)