N46D (p.Asn46Asp) variant of GHR (Growth hormone receptor)
N46D (p.Asn46Asp) 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, published literature, and structural context.
N46D (p.Asn46Asp) variant details
- p.Asn46Asp
- gnomAD 5-42629103-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.15
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.69
- Population evidence available
- Structural context available
- Literature evidence available