T9A (p.Thr9Ala) variant of GHR (Growth hormone receptor)
T9A (p.Thr9Ala) 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 0.35 / 1. The record also includes population frequency data and structural context.
T9A (p.Thr9Ala) variant details
- p.Thr9Ala
- rs528933970
- ClinGen CA3254281
- ClinVar RCV003855895
- 1000Genomes rs528933970
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.28
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available