K29K (p.Lys29Lys) variant of PTH (Parathyroid hormone)
K29K (p.Lys29Lys) in PTH (Parathyroid hormone) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K29K (p.Lys29Lys) variant details
- p.Lys29Lys
- rs1214802214
- gnomAD 11-13492666-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 16.30
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available