R7P (p.Arg7Pro) variant of FLNA (Filamin-A)
R7P (p.Arg7Pro) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of FLNA-related disorder; not provided; Heterotopia, periventricular, X-linked domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R7P (p.Arg7Pro) variant details
- p.Arg7Pro
- rs781814342
- ClinGen CA10561475
- cosmic curated COSV10524
- ClinVar RCV001219313
- Conflicting interpretations
- FLNA-related disorder; not provided; Heterotopia, periventricular, X-linked domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.47
- CADD 23.50
- PolyPhen-2 0.26
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (FLNA-related disorder; not provided; Heterotopia, periventricula)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)