H84R (p.His84Arg) variant of CLN3 (Battenin)
H84R (p.His84Arg) 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 0.35 / 1. The record also includes population frequency data and published literature.
H84R (p.His84Arg) variant details
- p.His84Arg
- rs2046262515
- ClinGen CA395346290
- ClinVar RCV001047365
- Ensembl rs2046262515
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 15.10
- PolyPhen-2 0.20
- SIFT 0.45
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)