A26V (p.Ala26Val) variant of GHR (Growth hormone receptor)
A26V (p.Ala26Val) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- gnomAD 5-42629044-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.23
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available