H63Q (p.His63Gln) variant of PTH (Parathyroid hormone)
H63Q (p.His63Gln) in PTH (Parathyroid hormone) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H63Q (p.His63Gln) variant details
- p.His63Gln
- gnomAD 11-13492564-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.63
- MetaLR 0.60
- MetaSVM 0.23
- CADD 22.10
- PolyPhen-2 0.45
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available