A17S (p.Ala17Ser) variant of SLC34A3 (Q8N130)
A17S (p.Ala17Ser) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- ExAC rs757872964
- TOPMed rs757872964
- gnomAD rs757872964
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- MetaLR 0.04
- MetaSVM -0.99
- CADD 0.34
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the REMAINING population (allele frequency 9.9e-05)
- Structural context available