N49S (p.Asn49Ser) variant of CLN3 (Battenin)
N49S (p.Asn49Ser) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
N49S (p.Asn49Ser) variant details
- p.Asn49Ser
- rs1474384057
- ClinGen CA395346540
- ClinVar RCV001926761
- TOPMed rs1474384057
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)