L29P (p.Leu29Pro) variant of GHR (Growth hormone receptor)
L29P (p.Leu29Pro) 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.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- gnomAD 5-42629053-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.52
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available