S31C (p.Ser31Cys) variant of SLC6A19 (Q695T7)
S31C (p.Ser31Cys) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S31C (p.Ser31Cys) variant details
- p.Ser31Cys
- TOPMed rs1477904804
- gnomAD rs1477904804
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.26
- ESM-1b 0.78
- AlphaMissense 0.12
- CADD 24.00
- PolyPhen-2 0.57
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available