G42S (p.Gly42Ser) variant of GHR (Growth hormone receptor)
G42S (p.Gly42Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G42S (p.Gly42Ser) variant details
- p.Gly42Ser
- ExAC rs772258414
- gnomAD rs772258414
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.22
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available