A228S (p.Ala228Ser) variant of FLNA (Filamin-A)
A228S (p.Ala228Ser) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Oto-palato-digital syndrome, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
A228S (p.Ala228Ser) variant details
- p.Ala228Ser
- rs2148119164
- ClinGen CA415248817
- ClinVar RCV002238711
- Ensembl rs2148119164
- Pathogenic
- Oto-palato-digital syndrome, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- AlphaMissense 0.84
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Pathogenic (Oto-palato-digital syndrome, type II)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)