A3T (p.Ala3Thr) variant of BAG3 (O95817)
A3T (p.Ala3Thr) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- rs956429406
- ClinGen CA214208015
- NCI-TCGA Cosmic COSV6484
- ClinVar RCV003051017
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.33
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.03
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.0467
- 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)