H45N (p.His45Asn) variant of PTH (Parathyroid hormone)
H45N (p.His45Asn) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H45N (p.His45Asn) variant details
- p.His45Asn
- gnomAD 11-13492620-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.38
- MetaLR 0.46
- MetaSVM -0.19
- CADD 20.40
- PolyPhen-2 0.29
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available