G42D (p.Gly42Asp) variant of GHR (Growth hormone receptor)
G42D (p.Gly42Asp) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- gnomAD 5-42629092-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.23
- CADD 6.96
- PolyPhen-2 0.22
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available