S30G (p.Ser30Gly) variant of SLC6A19 (Q695T7)
S30G (p.Ser30Gly) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S30G (p.Ser30Gly) variant details
- p.Ser30Gly
- gnomAD 5-1201738-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 3.50
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available