T5A (p.Thr5Ala) variant of BAG3 (O95817)
T5A (p.Thr5Ala) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1HH. 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.
T5A (p.Thr5Ala) variant details
- p.Thr5Ala
- rs777752849
- ClinGen CA5716202
- ClinVar RCV000414454
- ClinVar RCV001047745
- Conflicting interpretations
- Cardiovascular phenotype; not specified; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not specified; Dilated cardiomyopathy)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BAG3 WW domain domainome 1.0: score 0.874
- 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)