Y68F (p.Tyr68Phe) variant of FMR1 (Q06787)
Y68F (p.Tyr68Phe) in FMR1 (Q06787) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y68F (p.Tyr68Phe) variant details
- p.Tyr68Phe
- Ensembl rs201498256
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.15
- CADD 20.90
- PolyPhen-2 0.43
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available