K42R (p.Lys42Arg) variant of FLNA (Filamin-A)
K42R (p.Lys42Arg) 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; Front. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- rs1569551930
- ClinGen CA415255455
- ClinVar RCV002233290
- ClinVar RCV002424658
- Conflicting interpretations
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- AlphaMissense 0.64
- MetaLR 0.85
- MetaSVM 0.80
- PolyPhen-2 0.12
- SIFT 0.00
- MutPred 0.42
- ClinVar: Conflicting classifications of pathogenicity (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)