L6L (p.Leu6Leu) variant of GHR (Growth hormone receptor)
L6L (p.Leu6Leu) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD 5-42565890-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 10.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available