V39F (p.Val39Phe) variant of GHR (Growth hormone receptor)
V39F (p.Val39Phe) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V39F (p.Val39Phe) variant details
- p.Val39Phe
- gnomAD 5-42629082-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.41
- CADD 19.30
- PolyPhen-2 0.23
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available