P1603S (p.Pro1603Ser) variant of FLNB (Filamin-B)
P1603S (p.Pro1603Ser) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Atelosteogenesis type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
P1603S (p.Pro1603Ser) variant details
- p.Pro1603Ser
- rs2107224894
- ClinGen CA353352205
- ClinVar RCV002249990
- Ensembl rs2107224894
- Pathogenic
- Atelosteogenesis type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- AlphaMissense 0.88
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Pathogenic (Atelosteogenesis type I)
- EBI: Pathogenic (in LRS)
- UniProt: Pathogenic (in LRS)
- Structural context available
- Cited in: FLNB-Related Disorders. (PMID 20301736)