S48L (p.Ser48Leu) variant of SLC6A4 (P31645)
S48L (p.Ser48Leu) in SLC6A4 (P31645) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S48L (p.Ser48Leu) variant details
- p.Ser48Leu
- ExAC rs200339864
- gnomAD rs200339864
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.15
- MetaSVM -0.92
- CADD 22.70
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available