D1159A (p.Asp1159Ala) variant of FLNA (Filamin-A)
D1159A (p.Asp1159Ala) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Frontometaphyseal dysplasia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
D1159A (p.Asp1159Ala) variant details
- p.Asp1159Ala
- rs28935471
- ClinGen CA256057
- ClinVar RCV000012523
- UniProt VAR 015702
- Pathogenic
- Frontometaphyseal dysplasia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- AlphaMissense 0.55
- MetaLR 0.83
- MetaSVM 0.93
- PolyPhen-2 0.37
- SIFT 0.04
- EVE 0.63
- ClinVar: Pathogenic (Frontometaphyseal dysplasia 1)
- EBI: Pathogenic (in FMD1)
- UniProt: Pathogenic (in FMD1)
- Structural context available
- Cited in: Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (PMID 12612583)
- Cited in: Filamin A: phenotypic diversity. (PMID 15917206)