T73M (p.Thr73Met) variant of GNAT1 (P11488)
T73M (p.Thr73Met) in GNAT1 (P11488) 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 0.74 / 1. The record also includes population frequency data and structural context.
T73M (p.Thr73Met) variant details
- p.Thr73Met
- rs1236654107
- ClinGen CA352913370
- cosmic curated COSV10437
- ClinVar RCV001209348
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.75
- CADD 23.70
- PolyPhen-2 0.27
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available