T143I (p.Thr143Ile) variant of FLNA (Filamin-A)
T143I (p.Thr143Ile) 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; Heterotopia, periventricular, X-linked dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
T143I (p.Thr143Ile) variant details
- p.Thr143Ile
- rs1557179679
- ClinGen CA415250744
- ClinVar RCV000521507
- ClinVar RCV003989552
- Uncertain significance
- not provided; Heterotopia, periventricular, X-linked dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 0.29
- SIFT 0.00
- MutPred 0.75
- ClinVar: Uncertain significance (not provided; Heterotopia, periventricular, X-linked dominant)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)