E23K (p.Glu23Lys) variant of GHR (Growth hormone receptor)
E23K (p.Glu23Lys) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- TOPMed rs1749905585
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.14
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available