R31S (p.Arg31Ser) variant of GHR (Growth hormone receptor)
R31S (p.Arg31Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- gnomAD 5-42629060-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.13
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available