L4F (p.Leu4Phe) variant of SLC6A19 (Q695T7)
L4F (p.Leu4Phe) in SLC6A19 (Q695T7) 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 0.43 / 1. The record also includes population frequency data and structural context.
L4F (p.Leu4Phe) variant details
- p.Leu4Phe
- NCI-TCGA Cosmic COSV1004
- Ensembl rs1745701465
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available