S14F (p.Ser14Phe) variant of BAG3 (O95817)
S14F (p.Ser14Phe) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S14F (p.Ser14Phe) variant details
- p.Ser14Phe
- rs2134050488
- ClinGen CA378294052
- ClinVar RCV001888755
- ClinVar RCV002331401
- Uncertain significance
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.22
- CADD 26.50
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6; Cardiovascu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.31
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)