H53H (p.His53His) variant of GNAT1 (P11488)
H53H (p.His53His) in GNAT1 (P11488) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H53H (p.His53His) variant details
- p.His53His
- gnomAD 3-50193274-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.562
- CADD 11.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available