S72F (p.Ser72Phe) variant of SLC6A3 (Q01959)
S72F (p.Ser72Phe) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Parkinsonism-dystonia, infantile. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
S72F (p.Ser72Phe) variant details
- p.Ser72Phe
- rs1560928848
- ClinGen CA359064339
- NCI-TCGA Cosmic COSV5436
- ClinVar RCV002233571
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- AlphaMissense 0.99
- MetaLR 0.77
- MetaSVM 0.85
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available