E53E (p.Glu53Glu) variant of PTH (Parathyroid hormone)
E53E (p.Glu53Glu) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E53E (p.Glu53Glu) variant details
- p.Glu53Glu
- rs1847488979
- gnomAD 11-13492594-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 9.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available