D2G (p.Asp2Gly) variant of GHR (Growth hormone receptor)
D2G (p.Asp2Gly) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D2G (p.Asp2Gly) variant details
- p.Asp2Gly
- gnomAD 5-42565879-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.35
- CADD 27.10
- PolyPhen-2 0.02
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available