V62V (p.Val62Val) variant of PTH (Parathyroid hormone)
V62V (p.Val62Val) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V62V (p.Val62Val) variant details
- p.Val62Val
- rs2134093020
- gnomAD 11-13492567-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.186
- CADD 7.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available