I30V (p.Ile30Val) variant of BAG3 (O95817)
I30V (p.Ile30Val) 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; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- rs766796091
- ClinGen CA5716212
- ClinVar RCV001055637
- ClinVar RCV002374929
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrill)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.466
- 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)