p.Leu20 Thr21delinsPro variant of PTH (Parathyroid hormone)
p.Leu20 Thr21delinsPro in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu20 Thr21delinsPro variant details
- rs1565290530
- gnomAD 11-13492794-GTAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 17.10
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available