A26T (p.Ala26Thr) variant of FLNA (Filamin-A)
A26T (p.Ala26Thr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A26T (p.Ala26Thr) variant details
- p.Ala26Thr
- rs886038966
- ClinGen CA415255676
- ClinVar RCV001034843
- ClinVar RCV002313363
- Uncertain significance
- Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.10
- MetaLR 0.40
- MetaSVM -0.33
- PolyPhen-2 0.62
- SIFT 0.12
- MutPred 0.20
- ClinVar: Uncertain significance (Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotop)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)