R97Q (p.Arg97Gln) variant of ABCC9 (O60706)
R97Q (p.Arg97Gln) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R97Q (p.Arg97Gln) variant details
- p.Arg97Gln
- rs778951072
- ClinGen CA233620238
- cosmic curated COSV53976
- ClinVar RCV002720324
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.31
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.34
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)