T50R (p.Thr50Arg) variant of FLNA (Filamin-A)
T50R (p.Thr50Arg) 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 0.90 / 1. The record also includes structural context.
T50R (p.Thr50Arg) variant details
- p.Thr50Arg
- rs1557180204
- ClinGen CA415255319
- ClinVar RCV001509134
- gnomAD rs1557180204
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- AlphaMissense 0.98
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 0.85
- SIFT 0.00
- MutPred 0.77
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available