E59K (p.Glu59Lys) variant of SLC34A3 (Q8N130)
E59K (p.Glu59Lys) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E59K (p.Glu59Lys) variant details
- p.Glu59Lys
- cosmic curated COSV63186
- TOPMed rs1188666081
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- MetaLR 0.11
- MetaSVM -0.88
- CADD 33.00
- PolyPhen-2 0.26
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available