P17S (p.Pro17Ser) variant of FLNA (Filamin-A)
P17S (p.Pro17Ser) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- rs1229353720
- ClinGen CA415255796
- ClinVar RCV002695524
- TOPMed rs1229353720
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.17
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)