D2H (p.Asp2His) variant of GHR (Growth hormone receptor)
D2H (p.Asp2His) 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.
D2H (p.Asp2His) variant details
- p.Asp2His
- ExAC rs756257972
- gnomAD rs756257972
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.42
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 4e-05)
- Structural context available