H11H (p.His11His) variant of GNAT1 (P11488)
H11H (p.His11His) in GNAT1 (P11488) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
H11H (p.His11His) variant details
- p.His11His
- rs1019065205
- gnomAD 3-50191758-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 9.25
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available