A1188T (p.Ala1188Thr) variant of FLNA (Filamin-A)
A1188T (p.Ala1188Thr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
A1188T (p.Ala1188Thr) variant details
- p.Ala1188Thr
- rs28935472
- ClinGen CA341131
- cosmic curated COSV61036
- ClinVar RCV000012524
- Pathogenic/Likely pathogenic
- Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.82
- MetaLR 0.84
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.70
- ClinVar: Pathogenic/Likely pathogenic (Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasi)
- EBI: Pathogenic (in MNS)
- UniProt: Pathogenic (in MNS)
- Structural context available
- Cited in: Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (PMID 12612583)
- Cited in: Filamin A: phenotypic diversity. (PMID 15917206)