G51D (p.Gly51Asp) variant of SLC6A19 (Q695T7)
G51D (p.Gly51Asp) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
G51D (p.Gly51Asp) variant details
- p.Gly51Asp
- gnomAD 5-1201802-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -1.04
- CADD 27.10
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available