V55M (p.Val55Met) variant of SLC6A19 (Q695T7)
V55M (p.Val55Met) 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 0.77 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- rs199999773
- ExAC rs199999773
- TOPMed rs199999773
- gnomAD rs199999773
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.34
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available