A11A (p.Ala11Ala) variant of GHR (Growth hormone receptor)
A11A (p.Ala11Ala) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A11A (p.Ala11Ala) variant details
- p.Ala11Ala
- rs1749901140
- gnomAD 5-42565907-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available