H30R (p.His30Arg) variant of CLN3 (Battenin)
H30R (p.His30Arg) 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 0.07 / 1. The record also includes population frequency data and published literature.
H30R (p.His30Arg) variant details
- p.His30Arg
- rs1399199073
- ClinGen CA395347037
- ClinVar RCV000546992
- TOPMed rs1399199073
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.0675
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)