K44R (p.Lys44Arg) variant of GHR (Growth hormone receptor)
K44R (p.Lys44Arg) in GHR (Growth hormone receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K44R (p.Lys44Arg) variant details
- p.Lys44Arg
- gnomAD 5-42629095-TA-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available