K58Q (p.Lys58Gln) variant of SLC34A3 (Q8N130)
K58Q (p.Lys58Gln) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K58Q (p.Lys58Gln) variant details
- p.Lys58Gln
- TOPMed rs1240637297
- gnomAD rs1240637297
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- MetaLR 0.07
- MetaSVM -1.06
- CADD 22.70
- PolyPhen-2 0.46
- SIFT 0.05
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available