K62R (p.Lys62Arg) variant of FLNA (Filamin-A)
K62R (p.Lys62Arg) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
K62R (p.Lys62Arg) variant details
- p.Lys62Arg
- rs2148121972
- ClinGen CA415255106
- ClinVar RCV001886791
- Ensembl rs2148121972
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.48
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)