N93S (p.Asn93Ser) variant of CLN3 (Battenin)
N93S (p.Asn93Ser) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N93S (p.Asn93Ser) variant details
- p.Asn93Ser
- rs140409296
- ClinGen CA7981000
- ClinVar RCV001060110
- ClinVar RCV002436637
- Uncertain significance
- Inborn genetic diseases; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)