P24R (p.Pro24Arg) variant of BAG3 (O95817)
P24R (p.Pro24Arg) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P24R (p.Pro24Arg) variant details
- p.Pro24Arg
- rs771609568
- ClinGen CA5716209
- ClinVar RCV002033760
- ExAC rs771609568
- Uncertain significance
- Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.57
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH; not specifi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- BAG3 WW domain domainome 1.0: score -0.375
- 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)