R96W (p.Arg96Trp) variant of ABCC9 (O60706)
R96W (p.Arg96Trp) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R96W (p.Arg96Trp) variant details
- p.Arg96Trp
- rs373792254
- ClinGen CA6481905
- cosmic curated COSV53978
- ClinVar RCV003072989
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.28
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)