A23S (p.Ala23Ser) variant of GNAT1 (P11488)
A23S (p.Ala23Ser) in GNAT1 (P11488) 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 0.61 / 1. The record also includes population frequency data and structural context.
A23S (p.Ala23Ser) variant details
- p.Ala23Ser
- TOPMed rs1053549443
- gnomAD rs1053549443
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.49
- CADD 23.80
- PolyPhen-2 0.55
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available