Q10R (p.Gln10Arg) variant of FLNA (Filamin-A)
Q10R (p.Gln10Arg) 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; Oto-palato-digita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- rs781988041
- ClinGen CA10561472
- ClinVar RCV002234288
- ClinVar RCV002274101
- Conflicting interpretations
- not provided; Heterotopia, periventricular, X-linked dominant; Oto-palato-digita
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.23
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Conflicting classifications of pathogenicity (not provided; Heterotopia, periventricular, X-linked dominant; O)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00076)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)