I82F (p.Ile82Phe) variant of CLN3 (Battenin)
I82F (p.Ile82Phe) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Neuronal ceroid lipofuscinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
I82F (p.Ile82Phe) variant details
- p.Ile82Phe
- ESP rs370020452
- ExAC rs370020452
- TOPMed rs370020452
- gnomAD rs370020452
- Uncertain significance
- Inborn genetic diseases; Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- CADD 6.74
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (Inborn genetic diseases; Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00017)