S14F (p.Ser14Phe) variant of CLN3 (Battenin)
S14F (p.Ser14Phe) 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 0.70 / 1. The record also includes published literature.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs2141722690
- ClinGen CA395347509
- ClinVar RCV001896317
- Ensembl rs2141722690
- Uncertain significance
- Neuronal ceroid lipofuscinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.15
- MetaLR 0.86
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.10
- ClinVar: Uncertain significance (Neuronal ceroid lipofuscinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Neuronal ceroid lipofuscinoses. (PMID 19084560)