Q5H (p.Gln5His) variant of GHR (Growth hormone receptor)
Q5H (p.Gln5His) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- gnomAD 5-42565889-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.24
- CADD 23.10
- PolyPhen-2 0.46
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available