A24T (p.Ala24Thr) variant of GHR (Growth hormone receptor)
A24T (p.Ala24Thr) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- gnomAD 5-42565944-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.23
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available