S38V (p.Ser38Val) variant of GHR (Growth hormone receptor)
S38V (p.Ser38Val) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S38V (p.Ser38Val) variant details
- p.Ser38Val
- gnomAD 5-42629076-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available