G165R (p.Gly165Arg) variant of CLN3 (Battenin)
G165R (p.Gly165Arg) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
G165R (p.Gly165Arg) variant details
- p.Gly165Arg
- Ensembl rs1879051631
- Pathogenic/Likely pathogenic
- Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3)
- UniProt: Likely pathogenic
- Population evidence available