S64N (p.Ser64Asn) variant of CLN3 (Battenin)
S64N (p.Ser64Asn) 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 0.53 / 1. The record also includes published literature.
S64N (p.Ser64Asn) variant details
- p.Ser64Asn
- rs2046274351
- ClinGen CA395346446
- ClinVar RCV001245596
- Ensembl rs2046274351
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.33
- PolyPhen-2 0.01
- SIFT 0.21
- EVE 0.15
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)