N45S (p.Asn45Ser) variant of SLC6A4 (P31645)
N45S (p.Asn45Ser) in SLC6A4 (P31645) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Behavior disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N45S (p.Asn45Ser) variant details
- p.Asn45Ser
- rs200263321
- ClinGen CA8480495
- ClinVar RCV001126931
- 1000Genomes rs200263321
- Uncertain significance
- Behavior disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.14
- MetaSVM -1.00
- CADD 18.20
- ClinVar: Uncertain significance (Behavior disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available