L43Q (p.Leu43Gln) variant of GHR (Growth hormone receptor)
L43Q (p.Leu43Gln) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L43Q (p.Leu43Gln) variant details
- p.Leu43Gln
- gnomAD 5-42629095-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.54
- CADD 20.50
- PolyPhen-2 0.40
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available