R97W (p.Arg97Trp) variant of ABCC9 (O60706)
R97W (p.Arg97Trp) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R97W (p.Arg97Trp) variant details
- p.Arg97Trp
- rs727502875
- ClinGen CA175160
- cosmic curated COSV53965
- ClinVar RCV000150122
- Uncertain significance
- not specified; not provided; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.45
- CADD 16.50
- PolyPhen-2 0.29
- SIFT 0.19
- ClinVar: Uncertain significance (not specified; not provided; Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.29)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)