A27D (p.Ala27Asp) variant of GHR (Growth hormone receptor)
A27D (p.Ala27Asp) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD 5-42629047-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.49
- CADD 17.60
- PolyPhen-2 0.22
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available