A32T (p.Ala32Thr) variant of GHR (Growth hormone receptor)
A32T (p.Ala32Thr) 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.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- gnomAD 5-42629061-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.12
- CADD 16.80
- PolyPhen-2 0.01
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available