F127S (p.Phe127Ser) variant of SLC6A4 (P31645)
F127S (p.Phe127Ser) in SLC6A4 (P31645) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
F127S (p.Phe127Ser) variant details
- p.Phe127Ser
- ExAC rs780022333
- TOPMed rs780022333
- gnomAD rs780022333
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.62
- MetaSVM 0.36
- CADD 31.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available