S45C (p.Ser45Cys) variant of SLC6A3 (Q01959)
S45C (p.Ser45Cys) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- TOPMed rs1755440445
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.02
- CADD 25.30
- PolyPhen-2 0.84
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available