L10V (p.Leu10Val) variant of GHR (Growth hormone receptor)
L10V (p.Leu10Val) 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.
L10V (p.Leu10Val) variant details
- p.Leu10Val
- gnomAD 5-42565902-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available