H49H (p.His49His) variant of FLNC (Filamin-C)
H49H (p.His49His) in FLNC (Filamin-C) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H49H (p.His49His) variant details
- p.His49His
- rs3734972
- gnomAD 7-128830784-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 7.56
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)
- Cited in: Genome-wide screening for DNA variants associated with reading and language traits. (PMID 25065397)