S18S (p.Ser18Ser) variant of GNA11 (P29992)
S18S (p.Ser18Ser) in GNA11 (P29992) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs748439096
- gnomAD 19-3094705-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 14.70
- Most common in the East Asian population (allele frequency 0.0003)
- Structural context available
- Literature evidence available