D17N (p.Asp17Asn) variant of ABCC9 (O60706)
D17N (p.Asp17Asn) in ABCC9 (O60706) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- rs772070154
- ClinGen CA6481961
- NCI-TCGA Cosmic COSV9968
- cosmic curated COSV99684
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1O
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.17
- CADD 0.90
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)