L3L (p.Leu3Leu) variant of GHR (Growth hormone receptor)
L3L (p.Leu3Leu) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs1247837271
- gnomAD 5-42565883-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.289
- CADD 9.02
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Literature evidence available