E38G (p.Glu38Gly) variant of SLC34A3 (Q8N130)
E38G (p.Glu38Gly) in SLC34A3 (Q8N130) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E38G (p.Glu38Gly) variant details
- p.Glu38Gly
- cosmic curated COSV63187
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- MetaLR 0.07
- MetaSVM -1.05
- CADD 23.80
- PolyPhen-2 0.23
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available