A13V (p.Ala13Val) variant of BAG3 (O95817)
A13V (p.Ala13Val) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- rs2493979569
- ClinGen CA378294044
- ClinVar RCV003795692
- Uncertain significance
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.27
- CADD 25.60
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.54
- 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)