K62N (p.Lys62Asn) variant of FLNA (Filamin-A)
K62N (p.Lys62Asn) 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 0.77 / 1. The record also includes published literature and structural context.
K62N (p.Lys62Asn) variant details
- p.Lys62Asn
- rs2148121969
- ClinGen CA415255100
- ClinVar RCV001906454
- Ensembl rs2148121969
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- AlphaMissense 0.97
- MetaLR 0.80
- MetaSVM 0.74
- PolyPhen-2 0.62
- SIFT 0.00
- MutPred 0.50
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- 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)