V2644L (p.Val2644Leu) variant of FLNA (Filamin-A)
V2644L (p.Val2644Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V2644L (p.Val2644Leu) variant details
- p.Val2644Leu
- rs1557175101
- ClinGen CA415176819
- ClinVar RCV003805584
- Likely pathogenic
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.26
- CADD 15.80
- PolyPhen-2 0.24
- SIFT 0.06
- ClinVar: Likely pathogenic (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)