A24A (p.Ala24Ala) variant of GHR (Growth hormone receptor)
A24A (p.Ala24Ala) in GHR (Growth hormone receptor) is a protein-truncating 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.
A24A (p.Ala24Ala) variant details
- p.Ala24Ala
- rs763594388
- gnomAD 5-42629039-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 9.50
- Population evidence available
- Structural context available
- Literature evidence available