S4R (p.Ser4Arg) variant of SLC6A3 (Q01959)
S4R (p.Ser4Arg) in SLC6A3 (Q01959) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S4R (p.Ser4Arg) variant details
- p.Ser4Arg
- gnomAD rs1246803760
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.08
- MetaLR 0.24
- MetaSVM -0.88
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available