S73N (p.Ser73Asn) variant of CLN3 (Battenin)
S73N (p.Ser73Asn) 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 0.61 / 1. The record also includes population frequency data and published literature.
S73N (p.Ser73Asn) variant details
- p.Ser73Asn
- rs2046273337
- ClinGen CA395346390
- ClinVar RCV003531420
- TOPMed rs2046273337
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 22.20
- PolyPhen-2 0.91
- SIFT 0.23
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)