L29I (p.Leu29Ile) variant of GHR (Growth hormone receptor)
L29I (p.Leu29Ile) 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.
L29I (p.Leu29Ile) variant details
- p.Leu29Ile
- gnomAD 5-42629052-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.11
- CADD 13.90
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available