A27T (p.Ala27Thr) variant of GNAT1 (P11488)
A27T (p.Ala27Thr) in GNAT1 (P11488) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs1161256318
- TOPMed rs1161256318
- gnomAD rs1161256318
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.64
- CADD 24.50
- PolyPhen-2 0.65
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available