R89Q (p.Arg89Gln) variant of CLN3 (Battenin)
R89Q (p.Arg89Gln) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3. 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.
R89Q (p.Arg89Gln) variant details
- p.Arg89Gln
- rs766287694
- ClinGen CA313778
- ClinVar RCV000187027
- ClinVar RCV000801221
- Uncertain significance
- not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 24.10
- PolyPhen-2 0.81
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Neuronal ceroid lipofuscinosis; Neuronal ceroid li)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)