R96Q (p.Arg96Gln) variant of ABCC9 (O60706)
R96Q (p.Arg96Gln) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R96Q (p.Arg96Gln) variant details
- p.Arg96Gln
- rs202103893
- ClinGen CA302353
- NCI-TCGA Cosmic COSV5397
- cosmic curated COSV53973
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.18
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Dilated cardiomyopathy 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)