L43I (p.Leu43Ile) variant of GHR (Growth hormone receptor)
L43I (p.Leu43Ile) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L43I (p.Leu43Ile) variant details
- p.Leu43Ile
- gnomAD 5-42629094-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.16
- CADD 16.60
- PolyPhen-2 0.09
- SIFT 0.32
- Population evidence available
- Structural context available
- Literature evidence available