S27L (p.Ser27Leu) variant of FMR1 (Q06787)
S27L (p.Ser27Leu) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- gnomAD X-147921961-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.28
- CADD 28.10
- PolyPhen-2 0.79
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.593
- Literature evidence available