L25F (p.Leu25Phe) variant of CLN3 (Battenin)
L25F (p.Leu25Phe) 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 0.29 / 1. The record also includes population frequency data.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- ExAC rs752737552
- TOPMed rs752737552
- gnomAD rs752737552
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- CADD 4.35
- PolyPhen-2 0.12
- SIFT 0.16
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)