L36M (p.Leu36Met) variant of GHR (Growth hormone receptor)
L36M (p.Leu36Met) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L36M (p.Leu36Met) variant details
- p.Leu36Met
- gnomAD 5-42629073-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.86
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available