T25S (p.Thr25Ser) variant of GHR (Growth hormone receptor)
T25S (p.Thr25Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T25S (p.Thr25Ser) variant details
- p.Thr25Ser
- gnomAD 5-42629040-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.14
- CADD 11.10
- PolyPhen-2 0.11
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available