L104I (p.Leu104Ile) variant of SLC6A3 (Q01959)
L104I (p.Leu104Ile) 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 0.34 / 1. The record also includes population frequency data and structural context.
L104I (p.Leu104Ile) variant details
- p.Leu104Ile
- rs141740642
- ClinGen CA112968773
- ClinVar RCV001894312
- ESP rs141740642
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.06
- MetaLR 0.25
- MetaSVM -0.78
- PolyPhen-2 0.01
- SIFT 0.10
- MutPred 0.56
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available