E59G (p.Glu59Gly) variant of SLC34A3 (Q8N130)
E59G (p.Glu59Gly) in SLC34A3 (Q8N130) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E59G (p.Glu59Gly) variant details
- p.Glu59Gly
- gnomAD 9-137232575-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- MetaLR 0.09
- MetaSVM -0.99
- CADD 23.00
- PolyPhen-2 0.20
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available