S6A (p.Ser6Ala) variant of FLNA (Filamin-A)
S6A (p.Ser6Ala) 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 0.36 / 1. The record also includes published literature and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- rs1557180289
- ClinGen CA415255896
- ClinVar RCV003810606
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.18
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)