S8Y (p.Ser8Tyr) variant of SLC6A4 (P31645)
S8Y (p.Ser8Tyr) in SLC6A4 (P31645) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S8Y (p.Ser8Tyr) variant details
- p.Ser8Tyr
- NCI-TCGA Cosmic COSV5556
- cosmic curated COSV55565
- gnomAD rs1906775550
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.35
- MetaSVM -0.54
- CADD 22.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available