H84N (p.His84Asn) variant of CLN3 (Battenin)
H84N (p.His84Asn) 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; not provided; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
H84N (p.His84Asn) variant details
- p.His84Asn
- 1000Genomes rs201329358
- ExAC rs201329358
- TOPMed rs201329358
- gnomAD rs201329358
- Uncertain significance
- Inborn genetic diseases; not provided; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Neuronal ceroid lipofusci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)