S8P (p.Ser8Pro) variant of FLNC (Filamin-C)
S8P (p.Ser8Pro) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S8P (p.Ser8Pro) variant details
- p.Ser8Pro
- rs544875797
- ClinGen CA4473951
- ClinVar RCV001683701
- ClinVar RCV002445110
- Benign/Likely benign
- Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.14
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Benign/Likely benign (Distal myopathy with posterior leg and anterior hand involvement)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 5e-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)