N40D (p.Asn40Asp) variant of GHR (Growth hormone receptor)
N40D (p.Asn40Asp) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
N40D (p.Asn40Asp) variant details
- p.Asn40Asp
- gnomAD 5-42629085-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.15
- CADD 15.10
- PolyPhen-2 0.15
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available