N49H (p.Asn49His) variant of CLN3 (Battenin)
N49H (p.Asn49His) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
N49H (p.Asn49His) variant details
- p.Asn49His
- rs2506508655
- ClinGen CA395346545
- ClinVar RCV002797263
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 26.90
- 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 Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)