G1554R (p.Gly1554Arg) variant of FLNA (Filamin-A)
G1554R (p.Gly1554Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiac valvular dysplasia, X-linked; not provided; Familial thoracic aortic ane. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G1554R (p.Gly1554Arg) variant details
- p.Gly1554Arg
- rs1603360542
- ClinGen CA415214889
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10077
- Pathogenic/Likely pathogenic
- Cardiac valvular dysplasia, X-linked; not provided; Familial thoracic aortic ane
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 1.00
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Cardiac valvular dysplasia, X-linked; not provided; Familial tho)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Familial Ebstein's anomaly: a report of six cases in two generations associated with mild skeletal abnormalities. (PMID 1854572)
- Cited in: Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. (PMID 29237676)