R31I (p.Arg31Ile) variant of GHR (Growth hormone receptor)
R31I (p.Arg31Ile) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R31I (p.Arg31Ile) variant details
- p.Arg31Ile
- gnomAD 5-42629059-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.35
- CADD 17.90
- PolyPhen-2 0.16
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available