D22G (p.Asp22Gly) variant of FLNA (Filamin-A)
D22G (p.Asp22Gly) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- rs782598729
- ClinGen CA10561466
- cosmic curated COSV61041
- ClinVar RCV000513921
- Conflicting interpretations
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.10
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:PUR population (allele frequency 0.0068)
- 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)