P32R (p.Pro32Arg) variant of BAG3 (O95817)
P32R (p.Pro32Arg) in BAG3 (O95817) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P32R (p.Pro32Arg) variant details
- p.Pro32Arg
- rs759915726
- ClinGen CA378294166
- ClinVar RCV003360746
- ClinVar RCV003777492
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrillar myopathy 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.63
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1HH; Myofibrill)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.55
- 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)