M28V (p.Met28Val) variant of FLNA (Filamin-A)
M28V (p.Met28Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Heterotopia, periventricular, X-linked dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
M28V (p.Met28Val) variant details
- p.Met28Val
- rs1557180226
- ClinGen CA415255649
- ClinVar RCV000577884
- Ensembl rs1557180226
- Pathogenic
- Heterotopia, periventricular, X-linked dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.67
- MetaLR 0.51
- MetaSVM 0.09
- PolyPhen-2 0.22
- SIFT 0.00
- MutPred 0.17
- ClinVar: Pathogenic (Heterotopia, periventricular, X-linked dominant)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)