K26K (p.Lys26Lys) variant of PTH (Parathyroid hormone)
K26K (p.Lys26Lys) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
K26K (p.Lys26Lys) variant details
- p.Lys26Lys
- gnomAD 11-13492778-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.202
- CADD 7.30
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available