S27S (p.Ser27Ser) variant of FMR1 (Q06787)
S27S (p.Ser27Ser) in FMR1 (Q06787) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- gnomAD X-147912757-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.118
- CADD 5.21
- Most common in the Non-Finnish European population (allele frequency 4.3e-05)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.593
- Literature evidence available