S35I (p.Ser35Ile) variant of GHR (Growth hormone receptor)
S35I (p.Ser35Ile) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S35I (p.Ser35Ile) variant details
- p.Ser35Ile
- Ensembl rs1014385043
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.44
- CADD 15.90
- PolyPhen-2 0.02
- SIFT 0.66
- Most common in the Middle Eastern population (allele frequency 0.0002)
- Structural context available