S38C (p.Ser38Cys) variant of GHR (Growth hormone receptor)
S38C (p.Ser38Cys) 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.
S38C (p.Ser38Cys) variant details
- p.Ser38Cys
- gnomAD 5-42629079-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.24
- CADD 22.60
- PolyPhen-2 0.19
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available