S31Y (p.Ser31Tyr) variant of SLC6A19 (Q695T7)
S31Y (p.Ser31Tyr) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S31Y (p.Ser31Tyr) variant details
- p.Ser31Tyr
- gnomAD 5-1201742-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.21
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 22.70
- PolyPhen-2 0.31
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available