A26V (p.Ala26Val) variant of FLNA (Filamin-A)
A26V (p.Ala26Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of FLNA-related disorder; Heterotopia, periventricular, X-linked dominant; Melnick. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- rs782637786
- ClinGen CA10561464
- ClinVar RCV002233163
- ClinVar RCV004535709
- Conflicting interpretations
- FLNA-related disorder; Heterotopia, periventricular, X-linked dominant; Melnick
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.36
- CADD 22.90
- PolyPhen-2 0.34
- SIFT 0.19
- ClinVar: Conflicting classifications of pathogenicity (FLNA-related disorder; Heterotopia, periventricular, X-linked do)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)