V711D (p.Val711Asp) variant of FLNA (Filamin-A)
V711D (p.Val711Asp) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiac valvular dysplasia, X-linked. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes published literature and structural context.
V711D (p.Val711Asp) variant details
- p.Val711Asp
- rs267606817
- ClinGen CA121668
- ClinVar RCV000012545
- UniProt VAR 064158
- Pathogenic
- Cardiac valvular dysplasia, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- AlphaMissense 0.99
- MetaLR 0.58
- MetaSVM 0.22
- PolyPhen-2 0.95
- SIFT 0.01
- EVE 0.15
- ClinVar: Pathogenic (Cardiac valvular dysplasia, X-linked)
- EBI: Pathogenic (in CVDPX)
- UniProt: Pathogenic (in CVDPX)
- Structural context available
- Cited in: Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. (PMID 17190868)
- Cited in: FLNA Deficiency. (PMID 20301392)