P22S (p.Pro22Ser) variant of FLNC (Filamin-C)
P22S (p.Pro22Ser) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 26; Myofibrillar myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- rs368812043
- ClinGen CA4473958
- ClinVar RCV003344073
- ClinVar RCV004777893
- Conflicting interpretations
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 26; Myofibrillar myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.32
- CADD 27.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Hypertrophic cardiomyopathy 26; Myofib)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)