S15P (p.Ser15Pro) variant of GHR (Growth hormone receptor)
S15P (p.Ser15Pro) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S15P (p.Ser15Pro) variant details
- p.Ser15Pro
- gnomAD 5-42565917-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.51
- CADD 22.80
- PolyPhen-2 0.46
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available