S53N (p.Ser53Asn) variant of SLC6A3 (Q01959)
S53N (p.Ser53Asn) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- 1000Genomes rs540502065
- ExAC rs540502065
- gnomAD rs540502065
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.99
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available