P41L (p.Pro41Leu) variant of GHR (Growth hormone receptor)
P41L (p.Pro41Leu) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P41L (p.Pro41Leu) variant details
- p.Pro41Leu
- gnomAD 5-42629089-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.29
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available