V5E (p.Val5Glu) variant of SLC6A19 (Q695T7)
V5E (p.Val5Glu) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V5E (p.Val5Glu) variant details
- p.Val5Glu
- TOPMed rs1380853135
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 16.20
- PolyPhen-2 0.22
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available