S31A (p.Ser31Ala) variant of SLC6A19 (Q695T7)
S31A (p.Ser31Ala) in SLC6A19 (Q695T7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S31A (p.Ser31Ala) variant details
- p.Ser31Ala
- ExAC rs777143364
- TOPMed rs777143364
- gnomAD rs777143364
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available