D70Y (p.Asp70Tyr) variant of FLNA (Filamin-A)
D70Y (p.Asp70Tyr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
D70Y (p.Asp70Tyr) variant details
- p.Asp70Tyr
- TOPMed rs2067802334
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.98
- CADD 29.90
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available