P33L (p.Pro33Leu) variant of GHR (Growth hormone receptor)
P33L (p.Pro33Leu) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P33L (p.Pro33Leu) variant details
- p.Pro33Leu
- gnomAD 5-42629065-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.19
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.17
- Population evidence available
- Structural context available
- Literature evidence available