L12L (p.Leu12Leu) variant of GHR (Growth hormone receptor)
L12L (p.Leu12Leu) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs1437977068
- gnomAD 5-42565908-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 9.10
- Population evidence available
- Structural context available
- Literature evidence available