S31F (p.Ser31Phe) variant of SLC34A3 (Q8N130)
S31F (p.Ser31Phe) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- gnomAD rs1311518686
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- MetaLR 0.05
- MetaSVM -1.08
- CADD 15.30
- PolyPhen-2 0.45
- SIFT 0.21
- Most common in the South Asian population (allele frequency 1.2e-05)