A18D (p.Ala18Asp) variant of GHR (Growth hormone receptor)
A18D (p.Ala18Asp) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 5-42565927-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.48
- CADD 24.60
- PolyPhen-2 0.46
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available