R116L (p.Arg116Leu) variant of FLNA (Filamin-A)
R116L (p.Arg116Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R116L (p.Arg116Leu) variant details
- p.Arg116Leu
- rs2522771236
- ClinGen CA415254246
- ClinVar RCV003803246
- Uncertain significance
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.46
- CADD 24.50
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)