P23L (p.Pro23Leu) variant of BAG3 (O95817)
P23L (p.Pro23Leu) 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 0.83 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- rs1846843077
- ClinGen CA378294107
- ClinVar RCV001295494
- Ensembl rs1846843077
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.88
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.545
- 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)