D17D (p.Asp17Asp) variant of GHR (Growth hormone receptor)
D17D (p.Asp17Asp) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D17D (p.Asp17Asp) variant details
- p.Asp17Asp
- rs1460897433
- gnomAD 5-42565925-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 10.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available