V130M (p.Val130Met) variant of FLNA (Filamin-A)
V130M (p.Val130Met) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Heterotopia, periventricular, X-linked dominant; Melnick-Needles s. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
V130M (p.Val130Met) variant details
- p.Val130Met
- rs782151307
- ClinGen CA10561413
- cosmic curated COSV10524
- ClinVar RCV002685459
- Conflicting interpretations
- not provided; Heterotopia, periventricular, X-linked dominant; Melnick-Needles s
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.92
- CADD 26.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Heterotopia, periventricular, X-linked dominant; M)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)