S43S (p.Ser43Ser) variant of GNAT1 (P11488)
S43S (p.Ser43Ser) 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.
S43S (p.Ser43Ser) variant details
- p.Ser43Ser
- gnomAD 3-50193155-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 13.40
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available