Q5K (p.Gln5Lys) variant of GHR (Growth hormone receptor)
Q5K (p.Gln5Lys) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q5K (p.Gln5Lys) variant details
- p.Gln5Lys
- gnomAD 5-42565887-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.18
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available