L106H (p.Leu106His) variant of CLN3 (Battenin)
L106H (p.Leu106His) 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 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
L106H (p.Leu106His) variant details
- p.Leu106His
- rs2046245840
- ClinGen CA395346119
- cosmic curated COSV10606
- ClinVar RCV001376527
- Uncertain significance
- Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.95
- MetaLR 0.95
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available