S38N (p.Ser38Asn) variant of GHR (Growth hormone receptor)
S38N (p.Ser38Asn) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S38N (p.Ser38Asn) variant details
- p.Ser38Asn
- gnomAD 5-42629080-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.13
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available