K44M (p.Lys44Met) variant of GHR (Growth hormone receptor)
K44M (p.Lys44Met) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
K44M (p.Lys44Met) variant details
- p.Lys44Met
- gnomAD 5-42629098-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.42
- CADD 7.31
- PolyPhen-2 0.48
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available