A19D (p.Ala19Asp) variant of SLC6A19 (Q695T7)
A19D (p.Ala19Asp) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A19D (p.Ala19Asp) variant details
- p.Ala19Asp
- gnomAD 5-1201706-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0963
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available