P8S (p.Pro8Ser) variant of BAG3 (O95817)
P8S (p.Pro8Ser) 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 0.38 / 1. The record also includes experimental measurements, published literature, and structural context.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- rs2134050454
- ClinGen CA378294008
- ClinVar RCV001922342
- Ensembl rs2134050454
- Uncertain significance
- Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.21
- MetaLR 0.24
- MetaSVM -0.68
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.37
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.641
- 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)