A39E (p.Ala39Glu) variant of SLC6A19 (Q695T7)
A39E (p.Ala39Glu) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- gnomAD 5-1201766-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.66
- ESM-1b 1.00
- AlphaMissense 0.35
- CADD 22.30
- PolyPhen-2 0.87
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available