G2436R (p.Gly2436Arg) variant of FLNA (Filamin-A)
G2436R (p.Gly2436Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiac valvular dysplasia, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
G2436R (p.Gly2436Arg) variant details
- p.Gly2436Arg
- rs2522714778
- ClinGen CA415183722
- ClinVar RCV004538898
- ClinVar RCV006454783
- Likely pathogenic
- Cardiac valvular dysplasia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.95
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Cardiac valvular dysplasia, X-linked)
- 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)