A128T (p.Ala128Thr) variant of FLNA (Filamin-A)
A128T (p.Ala128Thr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac valvular dysplasia, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
A128T (p.Ala128Thr) variant details
- p.Ala128Thr
- rs1603363301
- ClinGen CA415251144
- ClinVar RCV003336019
- Uncertain significance
- Cardiac valvular dysplasia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.89
- MetaLR 0.82
- MetaSVM 0.60
- PolyPhen-2 0.01
- SIFT 0.01
- MutPred 0.86
- ClinVar: Uncertain significance (Cardiac valvular dysplasia, X-linked)
- EBI: Variant of uncertain significance (in PVNH1)
- UniProt: Uncertain significance (in PVNH1)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)