A3S (p.Ala3Ser) variant of BAG3 (O95817)
A3S (p.Ala3Ser) 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 0.49 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- rs956429406
- ClinGen CA378293977
- ClinVar RCV001104468
- ClinVar RCV001107228
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.30
- CADD 25.80
- PolyPhen-2 0.96
- SIFT 0.02
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)