D63H (p.Asp63His) variant of FLNC (Filamin-C)
D63H (p.Asp63His) in FLNC (Filamin-C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
D63H (p.Asp63His) variant details
- p.Asp63His
- ExAC rs762095259
- TOPMed rs762095259
- gnomAD rs762095259
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.78
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available