F19S (p.Phe19Ser) variant of FMR1 (Q06787)
F19S (p.Phe19Ser) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F19S (p.Phe19Ser) variant details
- p.Phe19Ser
- gnomAD X-147921937-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.35
- CADD 26.90
- PolyPhen-2 0.97
- SIFT 0.02
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.337
- Literature evidence available