A27A (p.Ala27Ala) variant of GHR (Growth hormone receptor)
A27A (p.Ala27Ala) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A27A (p.Ala27Ala) variant details
- p.Ala27Ala
- rs781185088
- gnomAD 5-42629048-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 7.00
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available