Q352H (p.Gln352His) variant of CLN3 (Battenin)
Q352H (p.Gln352His) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
Q352H (p.Gln352His) variant details
- p.Gln352His
- rs386833699
- ClinGen CA263608
- ClinVar RCV000049660
- Ensembl rs386833699
- Likely pathogenic
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.80
- MetaLR 0.95
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Neuronal ceroid lipofuscinosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)