A8V (p.Ala8Val) variant of FLNA (Filamin-A)
A8V (p.Ala8Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.39 / 1. The record also includes published literature and structural context.
A8V (p.Ala8Val) variant details
- p.Ala8Val
- rs1557180284
- ClinGen CA415255886
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10077
- Uncertain significance
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- AlphaMissense 0.11
- MetaLR 0.32
- MetaSVM -0.83
- PolyPhen-2 0.00
- SIFT 0.04
- MutPred 0.21
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)