N40S (p.Asn40Ser) variant of GHR (Growth hormone receptor)
N40S (p.Asn40Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N40S (p.Asn40Ser) variant details
- p.Asn40Ser
- gnomAD 5-42629086-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.13
- CADD 16.60
- PolyPhen-2 0.08
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available