P17Q (p.Pro17Gln) variant of SLC6A3 (Q01959)
P17Q (p.Pro17Gln) 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 0.33 / 1. The record also includes population frequency data and structural context.
P17Q (p.Pro17Gln) variant details
- p.Pro17Gln
- rs369923764
- ClinGen CA359065407
- ClinVar RCV002592936
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.11
- MetaLR 0.30
- MetaSVM -0.59
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available