V8M (p.Val8Met) variant of FMR1 (Q06787)
V8M (p.Val8Met) in FMR1 (Q06787) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- rs1557174007
- gnomAD rs1557174007
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- CADD 26.70
- PolyPhen-2 0.81
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- FMR1 K Homology domain, type 1 domainome 1.0: score -0.0539