S30A (p.Ser30Ala) variant of GHR (Growth hormone receptor)
S30A (p.Ser30Ala) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S30A (p.Ser30Ala) variant details
- p.Ser30Ala
- gnomAD 5-42629052-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 21.80
- Population evidence available
- Structural context available
- Literature evidence available