S53R (p.Ser53Arg) variant of SLC6A3 (Q01959)
S53R (p.Ser53Arg) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S53R (p.Ser53Arg) variant details
- p.Ser53Arg
- 1000Genomes rs116703280
- ESP rs116703280
- ExAC rs116703280
- TOPMed rs116703280
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -1.02
- CADD 1.40
- PolyPhen-2 0.02
- SIFT 0.52
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available