T45T (p.Thr45Thr) variant of GHR (Growth hormone receptor)
T45T (p.Thr45Thr) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T45T (p.Thr45Thr) variant details
- p.Thr45Thr
- gnomAD 5-42629102-A-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 21.50
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available