A23T (p.Ala23Thr) variant of GNAT1 (P11488)
A23T (p.Ala23Thr) 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 0.64 / 1. The record also includes population frequency data and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- rs1053549443
- ClinGen CA74598344
- ClinVar RCV003877871
- TOPMed rs1053549443
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.56
- CADD 24.70
- PolyPhen-2 0.70
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available