K57* (p.Lys57Ter) variant of PTH (Parathyroid hormone)
K57* (p.Lys57Ter) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K57* (p.Lys57Ter) variant details
- p.Lys57Ter
- rs2134093042
- gnomAD 11-13492584-T-TA
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 23.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available