N40K (p.Asn40Lys) variant of GHR (Growth hormone receptor)
N40K (p.Asn40Lys) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N40K (p.Asn40Lys) variant details
- p.Asn40Lys
- rs1023566603
- gnomAD 5-42424594-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- CADD 1.23
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available
- Literature evidence available