P32L (p.Pro32Leu) variant of BAG3 (O95817)
P32L (p.Pro32Leu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs759915726
- ClinGen CA378294167
- ClinVar RCV002780851
- ClinVar RCV003146629
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.73
- CADD 28.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; Cardiovascu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- 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)