H34L (p.His34Leu) variant of CLN3 (Battenin)
H34L (p.His34Leu) 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 0.30 / 1. The record also includes population frequency data and published literature.
H34L (p.His34Leu) variant details
- p.His34Leu
- rs759668300
- ClinGen CA7981078
- ClinVar RCV003027713
- ExAC rs759668300
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)