A18T (p.Ala18Thr) variant of GHR (Growth hormone receptor)
A18T (p.Ala18Thr) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs1749903679
- ClinGen CA359694477
- ClinVar RCV002806466
- TOPMed rs1749903679
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.19
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available