P21R (p.Pro21Arg) variant of BAG3 (O95817)
P21R (p.Pro21Arg) 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 0.63 / 1. The record also includes experimental measurements, published literature, and structural context.
P21R (p.Pro21Arg) variant details
- p.Pro21Arg
- rs1589619881
- ClinGen CA378294094
- ClinVar RCV001959842
- Ensembl rs1589619881
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.34
- MetaLR 0.61
- MetaSVM 0.37
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.32
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- BAG3 WW domain domainome 1.0: score -1.1
- 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)