S35N (p.Ser35Asn) variant of GHR (Growth hormone receptor)
S35N (p.Ser35Asn) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- gnomAD 5-42629071-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available