C53Y (p.Cys53Tyr) variant of FLNA (Filamin-A)
C53Y (p.Cys53Tyr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
C53Y (p.Cys53Tyr) variant details
- p.Cys53Tyr
- rs2148122005
- ClinGen CA415255267
- ClinVar RCV002252414
- Ensembl rs2148122005
- Uncertain significance
- See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- ClinVar: Uncertain significance (See cases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available