K44E (p.Lys44Glu) variant of GHR (Growth hormone receptor)
K44E (p.Lys44Glu) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K44E (p.Lys44Glu) variant details
- p.Lys44Glu
- gnomAD 5-42629097-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.17
- CADD 6.51
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available