N40I (p.Asn40Ile) variant of GHR (Growth hormone receptor)
N40I (p.Asn40Ile) 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 and structural context.
N40I (p.Asn40Ile) variant details
- p.Asn40Ile
- 1000Genomes rs181298988
- ExAC rs181298988
- gnomAD rs181298988
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.27
- CADD 18.30
- PolyPhen-2 0.30
- SIFT 0.40
- Most common in the 1KG:TSI population (allele frequency 0.0052)
- Structural context available