T50M (p.Thr50Met) variant of FLNA (Filamin-A)
T50M (p.Thr50Met) in FLNA (Filamin-A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
T50M (p.Thr50Met) variant details
- p.Thr50Met
- cosmic curated COSV10967
- gnomAD rs1557180204
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.92
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.00
- CADD 31.00
- PolyPhen-2 0.85
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available