R31G (p.Arg31Gly) variant of GHR (Growth hormone receptor)
R31G (p.Arg31Gly) 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.
R31G (p.Arg31Gly) variant details
- p.Arg31Gly
- gnomAD 5-42629058-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.30
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available