Q37H (p.Gln37His) variant of GHR (Growth hormone receptor)
Q37H (p.Gln37His) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q37H (p.Gln37His) variant details
- p.Gln37His
- gnomAD 5-42629078-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.45
- CADD 23.70
- PolyPhen-2 0.37
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available