G47A (p.Gly47Ala) variant of SLC6A19 (Q695T7)
G47A (p.Gly47Ala) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- gnomAD 5-1201790-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.87
- ESM-1b 0.00
- AlphaMissense 0.49
- CADD 25.70
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available