V39I (p.Val39Ile) variant of GHR (Growth hormone receptor)
V39I (p.Val39Ile) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V39I (p.Val39Ile) variant details
- p.Val39Ile
- gnomAD 5-42629082-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.31
- CADD 10.40
- PolyPhen-2 0.00
- SIFT 0.66
- Population evidence available
- Structural context available
- Literature evidence available