S35G (p.Ser35Gly) variant of GHR (Growth hormone receptor)
S35G (p.Ser35Gly) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
S35G (p.Ser35Gly) variant details
- p.Ser35Gly
- gnomAD 5-42629070-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.21
- CADD 16.40
- PolyPhen-2 0.03
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available