L43L (p.Leu43Leu) variant of GHR (Growth hormone receptor)
L43L (p.Leu43Leu) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- gnomAD 5-42629094-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 9.22
- Population evidence available
- Structural context available
- Literature evidence available