L8F (p.Leu8Phe) variant of GHR (Growth hormone receptor)
L8F (p.Leu8Phe) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- gnomAD 5-42565898-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.15
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available