P33H (p.Pro33His) variant of GHR (Growth hormone receptor)
P33H (p.Pro33His) in GHR (Growth hormone receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P33H (p.Pro33His) variant details
- p.Pro33His
- ESP rs377297987
- ExAC rs377297987
- gnomAD rs377297987
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.18
- CADD 14.90
- PolyPhen-2 0.04
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00032)
- Structural context available