V21F (p.Val21Phe) variant of FLNA (Filamin-A)
V21F (p.Val21Phe) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II; Heterotopia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V21F (p.Val21Phe) variant details
- p.Val21Phe
- rs1223954254
- ClinGen CA415255748
- ClinVar RCV002235303
- ClinVar RCV002360982
- Uncertain significance
- Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II; Heterotopia
- Missense
- Variant Prioritization Score for Impact Estimate 0.106
- REVEL 0.14
- CADD 1.20
- PolyPhen-2 0.10
- SIFT 0.17
- ClinVar: Uncertain significance (Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- 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)