Q45R (p.Gln45Arg) variant of FLNA (Filamin-A)
Q45R (p.Gln45Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Neurodevelopmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- rs398123613
- ClinGen CA221696
- ClinVar RCV000079686
- ClinVar RCV001527616
- Conflicting interpretations
- not provided; Neurodevelopmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.00
- MutPred 0.83
- ClinVar: Conflicting classifications of pathogenicity (not provided; Neurodevelopmental delay)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)