S30N (p.Ser30Asn) variant of GHR (Growth hormone receptor)
S30N (p.Ser30Asn) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- gnomAD 5-42629056-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.08
- CADD 4.59
- PolyPhen-2 0.01
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available