A24V (p.Ala24Val) variant of GHR (Growth hormone receptor)
A24V (p.Ala24Val) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD 5-42629038-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.10
- CADD 7.44
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available