S69W (p.Ser69Trp) variant of CLN3 (Battenin)
S69W (p.Ser69Trp) 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; Neuronal ceroid lipofuscinosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
S69W (p.Ser69Trp) variant details
- p.Ser69Trp
- rs769840061
- ClinGen CA395346412
- ClinVar RCV001116112
- ClinVar RCV001363020
- Uncertain significance
- Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis; Neuronal ceroid lipofuscinosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)