D31N (p.Asp31Asn) variant of FLNC (Filamin-C)
D31N (p.Asp31Asn) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D31N (p.Asp31Asn) variant details
- p.Asp31Asn
- rs2536605019
- ClinGen CA369215680
- ClinVar RCV003301926
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.48
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available