A65V (p.Ala65Val) variant of FLNA (Filamin-A)
A65V (p.Ala65Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- rs2067802428
- ClinGen CA415255060
- ClinVar RCV002937980
- Uncertain significance
- Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.06
- MetaLR 0.54
- MetaSVM -0.27
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.41
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)