L25I (p.Leu25Ile) variant of CLN3 (Battenin)
L25I (p.Leu25Ile) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar 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 0.26 / 1. The record also includes population frequency data.
L25I (p.Leu25Ile) variant details
- p.Leu25Ile
- ExAC rs752737552
- TOPMed rs752737552
- gnomAD rs752737552
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 1.20
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)