A26T (p.Ala26Thr) variant of GHR (Growth hormone receptor)
A26T (p.Ala26Thr) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- gnomAD 5-42629043-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.19
- CADD 7.18
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available