I105F (p.Ile105Phe) variant of CLN3 (Battenin)
I105F (p.Ile105Phe) in CLN3 (Battenin) is a missense change. Clinical records from ClinVar, EBI, 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
I105F (p.Ile105Phe) variant details
- p.Ile105Phe
- rs11552531
- ClinGen CA395346128
- ClinVar RCV003002026
- 1000Genomes rs11552531
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)