R36H (p.Arg36His) variant of FLNB (Filamin-B)
R36H (p.Arg36His) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Connective tissue disorder; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs142568031
- ClinGen CA2467454
- cosmic curated COSV10609
- ClinVar RCV000508479
- Conflicting interpretations
- Connective tissue disorder; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.62
- CADD 33.00
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Connective tissue disorder; not provided; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ACB population (allele frequency 0.033)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0476
- Cited in: FLNB-Related Disorders. (PMID 20301736)