L36P (p.Leu36Pro) variant of GHR (Growth hormone receptor)
L36P (p.Leu36Pro) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L36P (p.Leu36Pro) variant details
- p.Leu36Pro
- gnomAD 5-42629074-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.48
- CADD 23.40
- PolyPhen-2 0.93
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available