M102R (p.Met102Arg) variant of FLNA (Filamin-A)
M102R (p.Met102Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
M102R (p.Met102Arg) variant details
- p.Met102Arg
- rs2067801675
- ClinGen CA415254464
- ClinVar RCV001339645
- Ensembl rs2067801675
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- AlphaMissense 1.00
- MetaLR 0.78
- MetaSVM 0.44
- PolyPhen-2 0.28
- SIFT 0.00
- MutPred 0.56
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Variant of uncertain significance (in PVNH1)
- UniProt: Uncertain significance (in PVNH1)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)