N40T (p.Asn40Thr) variant of GHR (Growth hormone receptor)
N40T (p.Asn40Thr) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
N40T (p.Asn40Thr) variant details
- p.Asn40Thr
- rs1447810758
- gnomAD 5-42424593-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.19
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available