N47N (p.Asn47Asn) variant of PTH (Parathyroid hormone)
N47N (p.Asn47Asn) 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.
N47N (p.Asn47Asn) variant details
- p.Asn47Asn
- gnomAD 11-13492612-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 5.63
- Population evidence available
- Structural context available
- Literature evidence available