T23A (p.Thr23Ala) variant of FLNA (Filamin-A)
T23A (p.Thr23Ala) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
T23A (p.Thr23Ala) variant details
- p.Thr23Ala
- rs782244139
- ClinGen CA10561465
- ClinVar RCV002019411
- ClinVar RCV005834176
- Likely benign
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.12
- CADD 9.30
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Likely benign (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0001)
- 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)