G14D (p.Gly14Asp) variant of GHR (Growth hormone receptor)
G14D (p.Gly14Asp) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- rs1362754836
- gnomAD 5-42565864-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 31.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available