F127L (p.Phe127Leu) variant of SLC6A4 (P31645)
F127L (p.Phe127Leu) 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 0.35 / 1. The record also includes population frequency data and structural context.
F127L (p.Phe127Leu) variant details
- p.Phe127Leu
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99911
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.48
- ESM-1b 0.07
- AlphaMissense 0.69
- MetaLR 0.32
- MetaSVM -0.02
- CADD 17.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available