K57K (p.Lys57Lys) variant of PTH (Parathyroid hormone)
K57K (p.Lys57Lys) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K57K (p.Lys57Lys) variant details
- p.Lys57Lys
- gnomAD 11-13492582-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 7.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available