A4A (p.Ala4Ala) variant of PTH (Parathyroid hormone)
A4A (p.Ala4Ala) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A4A (p.Ala4Ala) variant details
- p.Ala4Ala
- rs886189291
- gnomAD 11-13492844-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.145
- CADD 9.11
- Population evidence available
- Structural context available
- Literature evidence available