R7W (p.Arg7Trp) variant of FLNA (Filamin-A)
R7W (p.Arg7Trp) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- rs941318584
- ClinGen CA337285541
- ClinVar RCV001731831
- ClinVar RCV002233043
- Benign/Likely benign
- Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.37
- CADD 32.00
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Benign/Likely benign (Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotop)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)