A1517D (p.Ala1517Asp) variant of FLNB (Filamin-B)
A1517D (p.Ala1517Asp) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Larsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes published literature and structural context.
A1517D (p.Ala1517Asp) variant details
- p.Ala1517Asp
- rs372940610
- ClinGen CA353351643
- ClinVar RCV002238710
- ESP rs372940610
- Likely pathogenic
- Larsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- AlphaMissense 0.97
- MetaLR 0.83
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Larsen syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)