L80V (p.Leu80Val) variant of FLNA (Filamin-A)
L80V (p.Leu80Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Heterotopia, periventricular, X-linked dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- rs2148121932
- ClinGen CA415254838
- ClinVar RCV001806363
- Ensembl rs2148121932
- Likely pathogenic
- Heterotopia, periventricular, X-linked dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- AlphaMissense 0.69
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.83
- SIFT 0.00
- MutPred 0.86
- ClinVar: Likely pathogenic (Heterotopia, periventricular, X-linked dominant)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)