A15E (p.Ala15Glu) variant of FLNA (Filamin-A)
A15E (p.Ala15Glu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Melnick-Needles syndrome; Heterotopia, periventricular, X-linked d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A15E (p.Ala15Glu) variant details
- p.Ala15Glu
- rs2522772142
- ClinGen CA415255819
- ClinVar RCV003023939
- ClinVar RCV004763513
- Uncertain significance
- not provided; Melnick-Needles syndrome; Heterotopia, periventricular, X-linked d
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.26
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided; Melnick-Needles syndrome; Heterotopia, periventric)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)