M154I (p.Met154Ile) variant of FLNA (Filamin-A)
M154I (p.Met154Ile) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
M154I (p.Met154Ile) variant details
- p.Met154Ile
- rs863223640
- gnomAD rs863223640
- ClinGen CA324452
- ClinVar RCV000199904
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.36
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6e-06)
- Structural context available