D2D (p.Asp2Asp) variant of GHR (Growth hormone receptor)
D2D (p.Asp2Asp) in GHR (Growth hormone receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
D2D (p.Asp2Asp) variant details
- p.Asp2Asp
- rs1185116615
- gnomAD 5-42565880-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 12.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available