A24D (p.Ala24Asp) variant of GHR (Growth hormone receptor)
A24D (p.Ala24Asp) in GHR (Growth hormone receptor) is a missense 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.
A24D (p.Ala24Asp) variant details
- p.Ala24Asp
- gnomAD 5-42629038-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.26
- CADD 6.99
- PolyPhen-2 0.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available