P17A (p.Pro17Ala) variant of FLNA (Filamin-A)
P17A (p.Pro17Ala) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom. 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.
P17A (p.Pro17Ala) variant details
- p.Pro17Ala
- rs1229353720
- ClinGen CA415255798
- ClinVar RCV003781204
- TOPMed rs1229353720
- Likely benign
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.20
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)