P2298S (p.Pro2298Ser) variant of FLNC (Filamin-C)
P2298S (p.Pro2298Ser) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Restrictive cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P2298S (p.Pro2298Ser) variant details
- p.Pro2298Ser
- rs1554401403
- ClinGen CA369214086
- ClinVar RCV000655927
- Ensembl rs1554401403
- Likely pathogenic
- Restrictive cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.81
- CADD 25.70
- PolyPhen-2 0.64
- SIFT 0.00
- ClinVar: Likely pathogenic (Restrictive cardiomyopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available