Q48Q (p.Gln48Gln) variant of GNAT1 (P11488)
Q48Q (p.Gln48Gln) in GNAT1 (P11488) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
Q48Q (p.Gln48Gln) variant details
- p.Gln48Gln
- gnomAD 3-50193170-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.399
- CADD 12.70
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available