V39A (p.Val39Ala) variant of GHR (Growth hormone receptor)
V39A (p.Val39Ala) 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.
V39A (p.Val39Ala) variant details
- p.Val39Ala
- gnomAD 5-42629083-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.26
- CADD 22.30
- PolyPhen-2 0.11
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available