G20S (p.Gly20Ser) variant of FLNA (Filamin-A)
G20S (p.Gly20Ser) 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; Oto-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
G20S (p.Gly20Ser) variant details
- p.Gly20Ser
- rs1557180247
- ClinGen CA415255764
- ClinVar RCV002711911
- ClinVar RCV006559609
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.15
- CADD 10.30
- PolyPhen-2 0.02
- SIFT 0.74
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)