H53R (p.His53Arg) variant of GNAT1 (P11488)
H53R (p.His53Arg) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
H53R (p.His53Arg) variant details
- p.His53Arg
- TOPMed rs1699441764
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.95
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available