S6P (p.Ser6Pro) variant of FLNA (Filamin-A)
S6P (p.Ser6Pro) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S6P (p.Ser6Pro) variant details
- p.Ser6Pro
- rs1557180289
- ClinGen CA415255897
- ClinVar RCV000524050
- ClinVar RCV001857974
- Conflicting interpretations
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.99
- CADD 18.30
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)