W142L (p.Trp142Leu) variant of FLNA (Filamin-A)
W142L (p.Trp142Leu) 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 0.88 / 1. The record also includes structural context.
W142L (p.Trp142Leu) variant details
- p.Trp142Leu
- rs1057524784
- ClinGen CA16608824
- ClinVar RCV000427481
- Ensembl rs1057524784
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.82
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available