S7P (p.Ser7Pro) variant of BAG3 (O95817)
S7P (p.Ser7Pro) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- rs1308142179
- ClinGen CA378294002
- ClinVar RCV002417101
- ClinVar RCV005215904
- Uncertain significance
- Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.17
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Myofibrillar myopathy 6; Dilated cardi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.212
- 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)