R89L (p.Arg89Leu) variant of CLN3 (Battenin)
R89L (p.Arg89Leu) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R89L (p.Arg89Leu) variant details
- p.Arg89Leu
- rs766287694
- ClinGen CA395346250
- ClinVar RCV001053324
- ExAC rs766287694
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)