p.Ser15 Ser16insArgSer variant of GHR (Growth hormone receptor)
p.Ser15 Ser16insArgSer in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser15 Ser16insArgSer variant details
- gnomAD 5-42565914-G-GGAT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 17.40
- Population evidence available
- Structural context available
- Literature evidence available