N38K (p.Asn38Lys) variant of SLC6A3 (Q01959)
N38K (p.Asn38Lys) 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 0.28 / 1. The record also includes population frequency data and structural context.
N38K (p.Asn38Lys) variant details
- p.Asn38Lys
- rs6350
- ClinGen CA3186480
- ClinVar RCV000546376
- 1000Genomes rs6350
- Uncertain significance
- Parkinsonism-dystonia, infantile
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.34
- MetaLR 0.39
- MetaSVM -0.02
- CADD 9.11
- PolyPhen-2 0.80
- SIFT 0.10
- ClinVar: Uncertain significance (Parkinsonism-dystonia, infantile)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available