N9H (p.Asn9His) variant of ABCC9 (O60706)
N9H (p.Asn9His) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N9H (p.Asn9His) variant details
- p.Asn9His
- rs895752614
- ClinGen CA384133965
- ClinVar RCV002644462
- Uncertain significance
- Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.33
- CADD 22.50
- PolyPhen-2 0.47
- SIFT 0.21
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00098)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)