R24Q (p.Arg24Gln) variant of CLN3 (Battenin)
R24Q (p.Arg24Gln) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Neuronal ceroid lipofuscinosis; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
R24Q (p.Arg24Gln) variant details
- p.Arg24Gln
- ExAC rs764455367
- Likely benign
- Neuronal ceroid lipofuscinosis; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- CADD 7.75
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Likely benign (Neuronal ceroid lipofuscinosis; Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)