N43S (p.Asn43Ser) variant of BAG3 (O95817)
N43S (p.Asn43Ser) in BAG3 (O95817) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N43S (p.Asn43Ser) variant details
- p.Asn43Ser
- ExAC rs201329879
- gnomAD rs201329879
- Likely benign
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.57
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Likely benign (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.788