Q101R (p.Gln101Arg) variant of FLNA (Filamin-A)
Q101R (p.Gln101Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palato-digital syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes published literature and structural context.
Q101R (p.Gln101Arg) variant details
- p.Gln101Arg
- rs2067801711
- ClinGen CA415254483
- ClinVar RCV001326927
- Ensembl rs2067801711
- Uncertain significance
- Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palato-digital syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.97
- MetaLR 0.77
- MetaSVM 0.45
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palat)
- 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)