H120N (p.His120Asn) variant of CLN3 (Battenin)
H120N (p.His120Asn) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H120N (p.His120Asn) variant details
- p.His120Asn
- rs145749864
- ClinGen CA7980964
- cosmic curated COSV61107
- ClinVar RCV001874953
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- AlphaMissense 0.31
- MetaLR 0.94
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.30
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)