D17G (p.Asp17Gly) variant of GHR (Growth hormone receptor)
D17G (p.Asp17Gly) 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 and structural context.
D17G (p.Asp17Gly) variant details
- p.Asp17Gly
- ExAC rs745825846
- gnomAD rs745825846
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.39
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available