T25I (p.Thr25Ile) variant of GHR (Growth hormone receptor)
T25I (p.Thr25Ile) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- gnomAD 5-42629041-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.14
- CADD 7.11
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available