K57E (p.Lys57Glu) variant of PTH (Parathyroid hormone)
K57E (p.Lys57Glu) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K57E (p.Lys57Glu) variant details
- p.Lys57Glu
- Ensembl rs1847488757
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.77
- CADD 15.90
- PolyPhen-2 0.05
- SIFT 0.15
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available