N41N (p.Asn41Asn) variant of PTH (Parathyroid hormone)
N41N (p.Asn41Asn) in PTH (Parathyroid hormone) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N41N (p.Asn41Asn) variant details
- p.Asn41Asn
- rs755183877
- gnomAD 11-13492630-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.19
- CADD 3.67
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available